We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma.
- Authors
Ming Li; Xunyi Dai; Ruhong Cheng; Lijia Yang; Zhirong Yao; Jiangbo Liu
- Abstract
The article describes a case study concerning punctate palmoplantar keratoderma (PPPK) or Buschke-Fischer-Brauer's disease in a four-generation Chinese family. Topics discussed include tiny punctate keratoses or lesions on the surface of the palms and soles, pathogenic mutations of genes in PPPK pedigrees, and an autosomal dominant inheritance pattern. Also mentioned are the mutation's segregation with the disease phenotype within family members and haploinsufficiency resulting in PPPK.
- Subjects
SKIN disease genetics; PHENOTYPES
- Publication
Acta Dermato-Venereologica, 2014, Vol 94, Issue 3, p339
- ISSN
0001-5555
- Publication type
Case Study