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- Title
Hypotrichosis with juvenile macular dystrophy with novel mutations in CDH3 gene.
- Authors
Liu, Yuanxiang; Xu, Zigang; Sun, Yujuan; Zhang, Bin; Wang, Xue; Ma, Lin
- Abstract
This article discusses a rare genetic disorder called Hypotrichosis with juvenile macular dystrophy (HJMD). HJMD is characterized by short and sparse hair at birth and progressive visual impairment due to mutations in the CDH3 gene. The article presents two families with HJMD and describes the specific mutations found in each family. Ophthalmic examinations revealed retinal abnormalities in the patients. The article also mentions the importance of the extracellular domains of the P-cadherin protein encoded by CDH3 and the potential for retinal gene therapy as a treatment option.
- Subjects
MACULAR degeneration; GENETIC mutation; MONOZYGOTIC twins; FRAMESHIFT mutation; NONSENSE mutation
- Publication
Australasian Journal of Dermatology, 2024, Vol 65, Issue 1, p91
- ISSN
0004-8380
- Publication type
Article
- DOI
10.1111/ajd.14170