Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c.811delA; p.Ser271fs) in &lt;i&gt;KRT83&lt;/i&gt;, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin.
C0265961
Erythrokeratodermia variabilis