Condition: Epidermolysis bullosa simplex with mottled pigmentation


rs57499817 in KRT5 gene and Epidermolysis bullosa simplex with mottled pigmentation PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PMID 10494094 1999 Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP.

PMID 8799157 1996 The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.