Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy | Zendy

Yutaka Shimomura | Zendy; Muhammad Wajid | Zendy; Mazen Kurban | Zendy; Angela M. Christiano | Zendy

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Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy

Author(s) -

Yutaka Shimomura,

Muhammad Wajid,

Mazen Kurban,

Angela M. Christiano

Publication year - 2010

Publication title -

dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.224

H-Index - 92

eISSN - 1421-9832

pISSN - 1018-8665

DOI - 10.1159/000275673

Subject(s) - hypotrichosis , macular dystrophy , genetics , ectodermal dysplasia , ectrodactyly , splice site mutation , haplotype , biology , mutation , nonsense mutation , dystrophy , missense mutation , gene , exon , genotype , alternative splicing

Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins.

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