CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

PURPOSE: CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mut...

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Detalhes bibliográficos
Publicado no:Am J Ophthalmol Case Rep
Main Authors: Karti, Omer, Abali, Saygin, Ayhan, Ziya, Gokmeydan, Eylem, Nalcaci, Serhad, Yaman, Aylin, Saatci, Ali Osman
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Case report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5722150/
https://ncbi.nlm.nih.gov/pubmed/29260097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2017.06.007
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