Cousin syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Cousin syndrome" in English language version.

refsWebsite
Global rank English rank
4th place
4th place
4,380th place
4,305th place
2nd place
2nd place

doi.org

nih.gov

ncbi.nlm.nih.gov

  • Cousin J, Walbaum R, Cegarra P, Huguet J, Louis J, Pauli A, Fournier A, Fontaine G. Dysplasie pelvi-scapulaire familiale avec anomalies épiphysaires, nanisme et dysmorphies: un nouveau syndrome? [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. Arch Fr Pediatr. 1982 Mar;39(3):173-5. French. PMID 7103674.
  • Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A (November 2008). "TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome". American Journal of Human Genetics. 83 (5): 649–55. doi:10.1016/j.ajhg.2008.10.011. PMC 2668032. PMID 19068278.
  • Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafé L, Superti-Furga A, Unger S. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Am J Med Genet A. 2013 Dec;161A(12):3161-5. doi: 10.1002/ajmg.a.36173. Epub 2013 Aug 16. PMID 24039145.
  • Unger S, Scherer G, Superti-Furga A. Campomelic Dysplasia. 2008 Jul 31 [Updated 2021 Mar 18]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1760/

rarediseases.info.nih.gov

pubmed.ncbi.nlm.nih.gov

omim.org

  • "OMIM Entry - # 260660 - COUSIN SYNDROME". www.omim.org.