Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy  

作　　者：Yunqing Ren Jipeng Liu Dianyi Yao Huixia Hua Xiaoxuan Guo Huatuo Dai Nan Dang Yan Huang Dianhe Yu 

机构地区：[1]Department of Dermatology,The Children’s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,Zhejiang 310052,China [2]Department of Ophthalmology,The Children’s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,Zhejiang 310052,China

出　　处：《Chinese Medical Journal》2022年第12期1503-1505,共3页中华医学杂志（英文版）

基　　金：This work was supported by a grant from the National Natural Science Foundation of China(No.81872520).

摘　　要：To the Editor:Hypotrichosis with juvenile macular dystrophy(HJMD,OMIM:601553)is a rare autosomal recessive disorder characterized by short and sparse hair,progressive macular degeneration,decreased visual acuity,andevenblindness in early life.

关 键 词：visual DYSTROPHY COMPOUND 

分 类 号：R774.5[医药卫生—眼科] R758.71[医药卫生—临床医学]