J. J. van den Ende, Y. van Bever, E. S. Rodini, A. Richieri-Costa: Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. In: American journal of medical genetics. Band 42, Nummer 4, Februar 1992, S. 467–469, doi:10.1002/ajmg.1320420411, PMID 1609830.
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N. Patel, M. A. Salih, M. J. Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, E. A. Elgamal, H. Y. Elkhashab, M. Al-Qattan, F. S. Alkuraya: Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome. In: Clinical genetics. Band 85, Nummer 5, Mai 2014, S. 492–494, doi:10.1111/cge.12205, PMID 23808541.
M. K. Hytönen, M. Arumilli, A. K. Lappalainen, M. Owczarek-Lipska, V. Jagannathan, S. Hundi, E. Salmela, P. Venta, E. Sarkiala, T. Jokinen, D. Gorgas, J. Kere, P. Nieminen, C. Drögemüller, H. Lohi: Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. In: PLoS genetics. Band 12, Nummer 5, 05 2016, S. e1006037, doi:10.1371/journal.pgen.1006037, PMID 27187611, PMC 4871343 (freier Volltext).
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J. J. van den Ende, Y. van Bever, E. S. Rodini, A. Richieri-Costa: Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. In: American journal of medical genetics. Band 42, Nummer 4, Februar 1992, S. 467–469, doi:10.1002/ajmg.1320420411, PMID 1609830.
A. Gupta, C. M. Hall, Y. F. Ransley, V. A. Murday: A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation. In: Journal of Medical Genetics. Band 32, Nummer 10, Oktober 1995, S. 809–812, doi:10.1136/jmg.32.10.809, PMID 8558561, PMC 1051707 (freier Volltext).
N. Patel, M. A. Salih, M. J. Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, E. A. Elgamal, H. Y. Elkhashab, M. Al-Qattan, F. S. Alkuraya: Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome. In: Clinical genetics. Band 85, Nummer 5, Mai 2014, S. 492–494, doi:10.1111/cge.12205, PMID 23808541.
M. K. Hytönen, M. Arumilli, A. K. Lappalainen, M. Owczarek-Lipska, V. Jagannathan, S. Hundi, E. Salmela, P. Venta, E. Sarkiala, T. Jokinen, D. Gorgas, J. Kere, P. Nieminen, C. Drögemüller, H. Lohi: Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. In: PLoS genetics. Band 12, Nummer 5, 05 2016, S. e1006037, doi:10.1371/journal.pgen.1006037, PMID 27187611, PMC 4871343 (freier Volltext).
