Condition: Fragile skin
rs1057515580 in
KLHL24 gene and
Fragile skin
PMID 27889062 2016 Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes.
PMID 27798626 2016 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.