New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

详细信息    查看全文

• 作者：Fiona Blanco-Kelly ; Luciana Rodrigues-Jacy da Silva…
• 关键词：Macular dystrophy ; CDH3 ; Hypotrichosis ; Syndromic retinal dystrophy ; Case report
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：4190KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundCDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy.