Σύνδρομο Βάαρντενμπουρχ (Greek Wikipedia)

Analysis of information sources in references of the Wikipedia article "Σύνδρομο Βάαρντενμπουρχ" in Greek language version.

refsWebsite

Global rank Greek rank

23nih.gov

4^th place

17doi.org

2^nd place

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15worldcat.org

5^th place

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10omim.org

4,380^th place

5,911^th place

3orpha.net

3,537^th place

2,148^th place

2books.google.com

3^rd place

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1unsw.edu.au

4,584^th place

low place

1archive.org

6^th place

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1harvard.edu

18^th place

57^th place

1web.archive.org

1^st place

1ntvg.nl

low place

archive.org

ΒάαρντενμπουρχPJ (September 1951). «A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows and Noseroot with Pigmentary Anomalies of the Iris and Head Hair and with Congenital Deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, Hyperplasia supercilii medialis et radicis nasi, Heterochromia iridum totalis sive partialis, Albinismus circumscriptus (leucismus, poliosis) et Surditas congenita (surdimutitas)». Am. J. Hum. Genet. 3 (3): 195–253. PMID 14902764. PMC 1716407. https://archive.org/details/sim_american-journal-of-human-genetics_1951-09_3_3/page/195.

books.google.com

Stedman, Thomas Lathrop (2005). Stedman's Medical Eponyms (στα Αγγλικά). Lippincott Williams & Wilkins. ISBN 978-0-7817-5443-9.
Annuario del Ministero dell'Educazione nazionale (στα Ιταλικά). Provveditorato generale dello Stato. 1935. σελ. 142.

doi.org

dx.doi.org

Pingault, Véronique; Ente, Dorothée; Moal, Florence Dastot-Le; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège (2010). «Review and update of mutations causing Βάαρντενμπουρχsyndrome» (στα αγγλικά). Human Mutation 31 (4): 391–406. doi:10.1002/humu.21211. ISSN 1098-1004. PMID 20127975.
Song, J.; Feng, Y.; Acke, F. R.; Coucke, P.; Vleminckx, K.; Dhooge, I. J. (2016). «Hearing loss in Βάαρντενμπουρχsyndrome: a systematic review» (στα αγγλικά). Clinical Genetics 89 (4): 416–425. doi:10.1111/cge.12631. ISSN 1399-0004. PMID 26100139.
Chandra Mohan, Setty. L. N. (2018-09-01). «Case of ΒάαρντενμπουρχShah syndrome in a family with review of literature». Journal of Otology 13 (3): 105–110. doi:10.1016/j.joto.2018.05.005. ISSN 1672-2930. PMID 30559775.
«Screening of MITF and SOX10 regulatory regions in Βάαρντενμπουρχsyndrome type 2». PLOS ONE 7 (7): e41927. 2012. doi:10.1371/journal.pone.0041927. PMID 22848661. Bibcode: 2012PLoSO...741927B.
Pierpont, J. W.; St Jacques, D.; Seaver, L. H.; Erickson, R. P. (March 1995). «A family with unusual Βάαρντενμπουρχsyndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3». Clinical Genetics 47 (3): 139–143. doi:10.1111/j.1399-0004.1995.tb03946.x. ISSN 0009-9163. PMID 7634536.
Verheij, Johanna B. G. M.; Sival, Deborah A.; van der Hoeven, Johannes H.; Vos, Yvonne J.; Meiners, Linda C.; Brouwer, Oebele F.; van Essen, Anthonie J. (January 2006). «Shah-Βάαρντενμπουρχsyndrome and PCWH associated with SOX10 mutations: a case report and review of the literature». European Journal of Paediatric Neurology 10 (1): 11–17. doi:10.1016/j.ejpn.2005.10.004. ISSN 1090-3798. PMID 16504559.
Williams, Antionette L.; Bohnsack, Brenda L. (June 2015). «Neural Crest Derivatives in Ocular Development: Discerning the Eye of the Storm». Birth Defects Research Part C: Embryo Today: Reviews 105 (2): 87–95. doi:10.1002/bdrc.21095. ISSN 1542-975X. PMID 26043871.
Kawakami, Akinori; Fisher, David E. (June 2017). «The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology». Laboratory Investigation; A Journal of Technical Methods and Pathology 97 (6): 649–656. doi:10.1038/labinvest.2017.9. ISSN 1530-0307. PMID 28263292.
Selicorni, Angelo; Guerneri, Silvana; Ratti, Antonia; Pizzuti, Antonio (January 2002). «Cytogenetic mapping of a novel locus for type II Βάαρντενμπουρχsyndrome». Human Genetics 110 (1): 64–67. doi:10.1007/s00439-001-0643-9. ISSN 0340-6717. PMID 11810298.
Sánchez‐Martín, Manuel; Pérez‐Losada, Jesús; Rodríguez‐García, Arancha; González‐Sánchez, Belén; Korf, Bruce R.; Kuster, W.; Moss, Celia; Spritz, Richard A. και άλλοι. (2003). «Deletion of the SLUG (SNAI2) gene results in human piebaldism» (στα αγγλικά). American Journal of Medical Genetics Part A 122A (2): 125–132. doi:10.1002/ajmg.a.20345. ISSN 1552-4833. PMID 12955764.
Tekin, M.; Bodurtha, J. N.; Nance, W. E.; Pandya, A. (2001). «Βάαρντενμπουρχsyndrome type 3 (Klein–Βάαρντενμπουρχsyndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?» (στα αγγλικά). Clinical Genetics 60 (4): 301–304. doi:10.1034/j.1399-0004.2001.600408.x. ISSN 1399-0004. PMID 11683776.
«Double heterozygous mutations of MITF and PAX3 result in Βάαρντενμπουρχsyndrome with increased penetrance in pigmentary defects». Clin. Genet. 83 (1): 78–82. January 2013. doi:10.1111/j.1399-0004.2012.01853.x. PMID 22320238.
Saleem, Mohammed D. (2019). «Biology of human melanocyte development, Piebaldism, and Βάαρντενμπουρχsyndrome» (στα αγγλικά). Pediatric Dermatology 36 (1): 72–84. doi:10.1111/pde.13713. ISSN 1525-1470. PMID 30561083.
Bogdanova‐Mihaylova, Petya; Alexander, Michael D.; Murphy, Raymond P. J.; Murphy, Sinéad M. (2017). «Βάαρντενμπουρχsyndrome: a rare cause of inherited neuropathy due to SOX10 mutation» (στα αγγλικά). Journal of the Peripheral Nervous System 22 (3): 219–223. doi:10.1111/jns.12221. ISSN 1529-8027. PMID 28544110.
De Haas, E. B. H.; Tan, K. E. W. P. (1966-01-01). «Waardenburg's syndrome» (στα αγγλικά). Documenta Ophthalmologica 21 (1): 239–282. doi:10.1007/BF00184136. ISSN 1573-2622. «Βάαρντενμπουρχ(1951, 1957, 1961) has expressed the belief that all these cases of uncomplicated blepharophimosis do in fact belong to his syndrome and that this type of dystopia canthorum does not occur as a separate trait. ... With regard to Mende's cases, [Waardenburg] believes that the 'mongoloid component' in these patients was in actuality due to dystopia canthorum.».
Klein, D. (February 1983). «Historical background and evidence for dominant inheritance of the Klein-Βάαρντενμπουρχsyndrome (type III)». American Journal of Medical Genetics 14 (2): 231–239. doi:10.1002/ajmg.1320140205. ISSN 0148-7299. PMID 6340503.
Goodman, R. M.; Lewithal, I.; Solomon, A.; Klein, D. (April 1982). «Upper limb involvement in the Klein-Waardenburg syndrome». American Journal of Medical Genetics 11 (4): 425–433. doi:10.1002/ajmg.1320110407. ISSN 0148-7299. PMID 7091186.

harvard.edu

adsabs.harvard.edu

«Screening of MITF and SOX10 regulatory regions in Βάαρντενμπουρχsyndrome type 2». PLOS ONE 7 (7): e41927. 2012. doi:10.1371/journal.pone.0041927. PMID 22848661. Bibcode: 2012PLoSO...741927B.

nih.gov

ncbi.nlm.nih.gov

Pingault, Véronique; Ente, Dorothée; Moal, Florence Dastot-Le; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège (2010). «Review and update of mutations causing Βάαρντενμπουρχsyndrome» (στα αγγλικά). Human Mutation 31 (4): 391–406. doi:10.1002/humu.21211. ISSN 1098-1004. PMID 20127975.
Song, J.; Feng, Y.; Acke, F. R.; Coucke, P.; Vleminckx, K.; Dhooge, I. J. (2016). «Hearing loss in Βάαρντενμπουρχsyndrome: a systematic review» (στα αγγλικά). Clinical Genetics 89 (4): 416–425. doi:10.1111/cge.12631. ISSN 1399-0004. PMID 26100139.
Chandra Mohan, Setty. L. N. (2018-09-01). «Case of ΒάαρντενμπουρχShah syndrome in a family with review of literature». Journal of Otology 13 (3): 105–110. doi:10.1016/j.joto.2018.05.005. ISSN 1672-2930. PMID 30559775.
ΒάαρντενμπουρχPJ (September 1951). «A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows and Noseroot with Pigmentary Anomalies of the Iris and Head Hair and with Congenital Deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, Hyperplasia supercilii medialis et radicis nasi, Heterochromia iridum totalis sive partialis, Albinismus circumscriptus (leucismus, poliosis) et Surditas congenita (surdimutitas)». Am. J. Hum. Genet. 3 (3): 195–253. PMID 14902764. PMC 1716407. https://archive.org/details/sim_american-journal-of-human-genetics_1951-09_3_3/page/195.
«Screening of MITF and SOX10 regulatory regions in Βάαρντενμπουρχsyndrome type 2». PLOS ONE 7 (7): e41927. 2012. doi:10.1371/journal.pone.0041927. PMID 22848661. Bibcode: 2012PLoSO...741927B.
Pierpont, J. W.; St Jacques, D.; Seaver, L. H.; Erickson, R. P. (March 1995). «A family with unusual Βάαρντενμπουρχsyndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3». Clinical Genetics 47 (3): 139–143. doi:10.1111/j.1399-0004.1995.tb03946.x. ISSN 0009-9163. PMID 7634536.
Verheij, Johanna B. G. M.; Sival, Deborah A.; van der Hoeven, Johannes H.; Vos, Yvonne J.; Meiners, Linda C.; Brouwer, Oebele F.; van Essen, Anthonie J. (January 2006). «Shah-Βάαρντενμπουρχsyndrome and PCWH associated with SOX10 mutations: a case report and review of the literature». European Journal of Paediatric Neurology 10 (1): 11–17. doi:10.1016/j.ejpn.2005.10.004. ISSN 1090-3798. PMID 16504559.
Williams, Antionette L.; Bohnsack, Brenda L. (June 2015). «Neural Crest Derivatives in Ocular Development: Discerning the Eye of the Storm». Birth Defects Research Part C: Embryo Today: Reviews 105 (2): 87–95. doi:10.1002/bdrc.21095. ISSN 1542-975X. PMID 26043871.
Kawakami, Akinori; Fisher, David E. (June 2017). «The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology». Laboratory Investigation; A Journal of Technical Methods and Pathology 97 (6): 649–656. doi:10.1038/labinvest.2017.9. ISSN 1530-0307. PMID 28263292.
Selicorni, Angelo; Guerneri, Silvana; Ratti, Antonia; Pizzuti, Antonio (January 2002). «Cytogenetic mapping of a novel locus for type II Βάαρντενμπουρχsyndrome». Human Genetics 110 (1): 64–67. doi:10.1007/s00439-001-0643-9. ISSN 0340-6717. PMID 11810298.
Sánchez‐Martín, Manuel; Pérez‐Losada, Jesús; Rodríguez‐García, Arancha; González‐Sánchez, Belén; Korf, Bruce R.; Kuster, W.; Moss, Celia; Spritz, Richard A. και άλλοι. (2003). «Deletion of the SLUG (SNAI2) gene results in human piebaldism» (στα αγγλικά). American Journal of Medical Genetics Part A 122A (2): 125–132. doi:10.1002/ajmg.a.20345. ISSN 1552-4833. PMID 12955764.
Tekin, M.; Bodurtha, J. N.; Nance, W. E.; Pandya, A. (2001). «Βάαρντενμπουρχsyndrome type 3 (Klein–Βάαρντενμπουρχsyndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?» (στα αγγλικά). Clinical Genetics 60 (4): 301–304. doi:10.1034/j.1399-0004.2001.600408.x. ISSN 1399-0004. PMID 11683776.
«Double heterozygous mutations of MITF and PAX3 result in Βάαρντενμπουρχsyndrome with increased penetrance in pigmentary defects». Clin. Genet. 83 (1): 78–82. January 2013. doi:10.1111/j.1399-0004.2012.01853.x. PMID 22320238.
Saleem, Mohammed D. (2019). «Biology of human melanocyte development, Piebaldism, and Βάαρντενμπουρχsyndrome» (στα αγγλικά). Pediatric Dermatology 36 (1): 72–84. doi:10.1111/pde.13713. ISSN 1525-1470. PMID 30561083.
Bogdanova‐Mihaylova, Petya; Alexander, Michael D.; Murphy, Raymond P. J.; Murphy, Sinéad M. (2017). «Βάαρντενμπουρχsyndrome: a rare cause of inherited neuropathy due to SOX10 mutation» (στα αγγλικά). Journal of the Peripheral Nervous System 22 (3): 219–223. doi:10.1111/jns.12221. ISSN 1529-8027. PMID 28544110.
Klein, D. (February 1983). «Historical background and evidence for dominant inheritance of the Klein-Βάαρντενμπουρχsyndrome (type III)». American Journal of Medical Genetics 14 (2): 231–239. doi:10.1002/ajmg.1320140205. ISSN 0148-7299. PMID 6340503.
Goodman, R. M.; Lewithal, I.; Solomon, A.; Klein, D. (April 1982). «Upper limb involvement in the Klein-Waardenburg syndrome». American Journal of Medical Genetics 11 (4): 425–433. doi:10.1002/ajmg.1320110407. ISSN 0148-7299. PMID 7091186.

pubmedcentral.nih.gov

Chandra Mohan, Setty. L. N. (2018-09-01). «Case of ΒάαρντενμπουρχShah syndrome in a family with review of literature». Journal of Otology 13 (3): 105–110. doi:10.1016/j.joto.2018.05.005. ISSN 1672-2930. PMID 30559775.
ΒάαρντενμπουρχPJ (September 1951). «A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows and Noseroot with Pigmentary Anomalies of the Iris and Head Hair and with Congenital Deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, Hyperplasia supercilii medialis et radicis nasi, Heterochromia iridum totalis sive partialis, Albinismus circumscriptus (leucismus, poliosis) et Surditas congenita (surdimutitas)». Am. J. Hum. Genet. 3 (3): 195–253. PMID 14902764. PMC 1716407. https://archive.org/details/sim_american-journal-of-human-genetics_1951-09_3_3/page/195.
«Screening of MITF and SOX10 regulatory regions in Βάαρντενμπουρχsyndrome type 2». PLOS ONE 7 (7): e41927. 2012. doi:10.1371/journal.pone.0041927. PMID 22848661. Bibcode: 2012PLoSO...741927B.
Williams, Antionette L.; Bohnsack, Brenda L. (June 2015). «Neural Crest Derivatives in Ocular Development: Discerning the Eye of the Storm». Birth Defects Research Part C: Embryo Today: Reviews 105 (2): 87–95. doi:10.1002/bdrc.21095. ISSN 1542-975X. PMID 26043871.

rarediseases.info.nih.gov

«Βάαρντενμπουρχsyndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program». rarediseases.info.nih.gov (στα Αγγλικά). Ανακτήθηκε στις 17 Απριλίου 2018.

ghr.nlm.nih.gov

«Βάαρντενμπουρχsyndrome». Genetics Home Reference. Οκτωβρίου 2012.

ntvg.nl

«Over twee op elkaar gelijkende, in wezen echter verschillende aangeboren oogafwijkingen». Nederlands Tijdschrift voor Geneeskunde (στα Ολλανδικά). 2 Δεκεμβρίου 2009. Ανακτήθηκε στις 10 Δεκεμβρίου 2019.

omim.org

«OMIM Entry - # 193500 - ΒάαρντενμπουρχSYNDROME, TYPE 1; WS1». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 148820 - ΒάαρντενμπουρχSYNDROME, TYPE 3; WS3». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 277580 - ΒάαρντενμπουρχSYNDROME, TYPE 4A; WS4A». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 611584 - ΒάαρντενμπουρχSYNDROME, TYPE 2E; WS2E». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 193510 - ΒάαρντενμπουρχSYNDROME, TYPE 2A; WS2A». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 608890 - ΒάαρντενμπουρχSYNDROME, TYPE 2D; WS2D». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 613266 - ΒάαρντενμπουρχSYNDROME, TYPE 4C; WS4C». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - % 600193 - ΒάαρντενμπουρχSYNDROME, TYPE 2B; WS2B». www.omim.org. Ανακτήθηκε στις 23 Δεκεμβρίου 2019.
«OMIM Entry - % 606662 - ΒάαρντενμπουρχSYNDROME, TYPE 2C; WS2C». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.
«OMIM Entry - # 613265 - ΒάαρντενμπουρχSYNDROME, TYPE 4B; WS4B». omim.org. Ανακτήθηκε στις 7 Δεκεμβρίου 2019.

orpha.net

«Orphanet: Search a disease». www.orpha.net (στα Αγγλικά). Ανακτήθηκε στις 10 Δεκεμβρίου 2019.
«Orphanet: Βάαρντενμπουρχsyndrome type 1». www.orpha.net (στα Αγγλικά). Ανακτήθηκε στις 10 Δεκεμβρίου 2019.
«Βάαρντενμπουρχsyndrome type II» (PDF). Orphanet. 2005. Αρχειοθετήθηκε από το πρωτότυπο (PDF) στις 24 Απριλίου 2021. Ανακτήθηκε στις 10 Δεκεμβρίου 2019.

unsw.edu.au

embryology.med.unsw.edu.au

«Neural Crest Development - Embryology». embryology.med.unsw.edu.au. Ανακτήθηκε στις 13 Δεκεμβρίου 2019.

web.archive.org

«Βάαρντενμπουρχsyndrome type II» (PDF). Orphanet. 2005. Αρχειοθετήθηκε από το πρωτότυπο (PDF) στις 24 Απριλίου 2021. Ανακτήθηκε στις 10 Δεκεμβρίου 2019.

worldcat.org

Pingault, Véronique; Ente, Dorothée; Moal, Florence Dastot-Le; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège (2010). «Review and update of mutations causing Βάαρντενμπουρχsyndrome» (στα αγγλικά). Human Mutation 31 (4): 391–406. doi:10.1002/humu.21211. ISSN 1098-1004. PMID 20127975.
Song, J.; Feng, Y.; Acke, F. R.; Coucke, P.; Vleminckx, K.; Dhooge, I. J. (2016). «Hearing loss in Βάαρντενμπουρχsyndrome: a systematic review» (στα αγγλικά). Clinical Genetics 89 (4): 416–425. doi:10.1111/cge.12631. ISSN 1399-0004. PMID 26100139.
Chandra Mohan, Setty. L. N. (2018-09-01). «Case of ΒάαρντενμπουρχShah syndrome in a family with review of literature». Journal of Otology 13 (3): 105–110. doi:10.1016/j.joto.2018.05.005. ISSN 1672-2930. PMID 30559775.
Pierpont, J. W.; St Jacques, D.; Seaver, L. H.; Erickson, R. P. (March 1995). «A family with unusual Βάαρντενμπουρχsyndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3». Clinical Genetics 47 (3): 139–143. doi:10.1111/j.1399-0004.1995.tb03946.x. ISSN 0009-9163. PMID 7634536.
Verheij, Johanna B. G. M.; Sival, Deborah A.; van der Hoeven, Johannes H.; Vos, Yvonne J.; Meiners, Linda C.; Brouwer, Oebele F.; van Essen, Anthonie J. (January 2006). «Shah-Βάαρντενμπουρχsyndrome and PCWH associated with SOX10 mutations: a case report and review of the literature». European Journal of Paediatric Neurology 10 (1): 11–17. doi:10.1016/j.ejpn.2005.10.004. ISSN 1090-3798. PMID 16504559.
Williams, Antionette L.; Bohnsack, Brenda L. (June 2015). «Neural Crest Derivatives in Ocular Development: Discerning the Eye of the Storm». Birth Defects Research Part C: Embryo Today: Reviews 105 (2): 87–95. doi:10.1002/bdrc.21095. ISSN 1542-975X. PMID 26043871.
Kawakami, Akinori; Fisher, David E. (June 2017). «The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology». Laboratory Investigation; A Journal of Technical Methods and Pathology 97 (6): 649–656. doi:10.1038/labinvest.2017.9. ISSN 1530-0307. PMID 28263292.
Selicorni, Angelo; Guerneri, Silvana; Ratti, Antonia; Pizzuti, Antonio (January 2002). «Cytogenetic mapping of a novel locus for type II Βάαρντενμπουρχsyndrome». Human Genetics 110 (1): 64–67. doi:10.1007/s00439-001-0643-9. ISSN 0340-6717. PMID 11810298.
Sánchez‐Martín, Manuel; Pérez‐Losada, Jesús; Rodríguez‐García, Arancha; González‐Sánchez, Belén; Korf, Bruce R.; Kuster, W.; Moss, Celia; Spritz, Richard A. και άλλοι. (2003). «Deletion of the SLUG (SNAI2) gene results in human piebaldism» (στα αγγλικά). American Journal of Medical Genetics Part A 122A (2): 125–132. doi:10.1002/ajmg.a.20345. ISSN 1552-4833. PMID 12955764.
Tekin, M.; Bodurtha, J. N.; Nance, W. E.; Pandya, A. (2001). «Βάαρντενμπουρχsyndrome type 3 (Klein–Βάαρντενμπουρχsyndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?» (στα αγγλικά). Clinical Genetics 60 (4): 301–304. doi:10.1034/j.1399-0004.2001.600408.x. ISSN 1399-0004. PMID 11683776.
Saleem, Mohammed D. (2019). «Biology of human melanocyte development, Piebaldism, and Βάαρντενμπουρχsyndrome» (στα αγγλικά). Pediatric Dermatology 36 (1): 72–84. doi:10.1111/pde.13713. ISSN 1525-1470. PMID 30561083.
Bogdanova‐Mihaylova, Petya; Alexander, Michael D.; Murphy, Raymond P. J.; Murphy, Sinéad M. (2017). «Βάαρντενμπουρχsyndrome: a rare cause of inherited neuropathy due to SOX10 mutation» (στα αγγλικά). Journal of the Peripheral Nervous System 22 (3): 219–223. doi:10.1111/jns.12221. ISSN 1529-8027. PMID 28544110.
De Haas, E. B. H.; Tan, K. E. W. P. (1966-01-01). «Waardenburg's syndrome» (στα αγγλικά). Documenta Ophthalmologica 21 (1): 239–282. doi:10.1007/BF00184136. ISSN 1573-2622. «Βάαρντενμπουρχ(1951, 1957, 1961) has expressed the belief that all these cases of uncomplicated blepharophimosis do in fact belong to his syndrome and that this type of dystopia canthorum does not occur as a separate trait. ... With regard to Mende's cases, [Waardenburg] believes that the 'mongoloid component' in these patients was in actuality due to dystopia canthorum.».
Klein, D. (February 1983). «Historical background and evidence for dominant inheritance of the Klein-Βάαρντενμπουρχsyndrome (type III)». American Journal of Medical Genetics 14 (2): 231–239. doi:10.1002/ajmg.1320140205. ISSN 0148-7299. PMID 6340503.
Goodman, R. M.; Lewithal, I.; Solomon, A.; Klein, D. (April 1982). «Upper limb involvement in the Klein-Waardenburg syndrome». American Journal of Medical Genetics 11 (4): 425–433. doi:10.1002/ajmg.1320110407. ISSN 0148-7299. PMID 7091186.