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

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 identif...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Hayashi, Takaaki, Katagiri, Satoshi, Kubota, Daiki, Mizobuchi, Kei, Ishiuji, Yozo, Asahina, Akihiko, Kameya, Shuhei, Nakano, Tadashi
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2021
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8222849/
https://ncbi.nlm.nih.gov/pubmed/33837674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1688
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