Article
Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jul 2018
Chen P, Sun S, Zeng K, Li C, Wen J, Liang J, Tian X, Jiang Y, Zhang J, Zhang S, Han K, Han C, Zhang X
Abstract excerpt
BACKGROUND: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVES: To investigate the inheritance and pathogenesis of SAK. METHODS: Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK-related mutations, and a potentially responsible gene transcription factor 4 (TCF4) was identified....
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