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

Takaaki HayashiSatoshi KatagiriDaiki KubotaKei MizobuchiYozo IshiujiAkihiko AsahinaShuhei KameyaTadashi Nakano

Published in: Molecular genetics & genomic medicine (2021)

This is the first report of Japanese patients with HJMD and novel compound heterozygous truncating variants in CDH3. Our findings can expand the knowledge and understanding of CDH3-related HJMD, which could be helpful to ophthalmologists and dermatologists.

Keyphrases

early onset
healthcare
optical coherence tomography
copy number
diabetic retinopathy
gene expression
dna methylation
drug induced