Open AccessNovel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Author(s) -
Yunqing Ren,
Jipeng Liu,
Dianyi Yao,
Huixia Hua,
Xiaoxuan Guo,
Huatuo Dai,
N. H. Dang,
Yan Huang,
Dianhe Yu
Publication year - 2022
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000002190
Subject(s) - exome sequencing , hypotrichosis , sanger sequencing , genetics , macular dystrophy , compound heterozygosity , nonsense mutation , proband , tgfbi , exome , biology , medicine , mutation , gene , missense mutation