The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy

Abstract Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P‐cadherin. Here, we report two Japanese sibling patients with HJMD. Methods Whole‐exome sequencing (WES) was performed to...

Full description

Bibliographic Details
Main Authors: Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CDH3
electroretinography
hypotrichosis
Japanese
macular dystrophy
retina
Online Access:https://doi.org/10.1002/mgg3.1688

Internet

https://doi.org/10.1002/mgg3.1688

Similar Items