A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Hypotrichosis 12 (HYPT12) is a form of autosomal dominant nonsyndromic hypotrichosis previously linked to a pathogenic missense variant in the I RPL21 i gene. A 44-year-old White British man presented with hair loss affecting the scalp, eyebrows, eyelashes and body (Figure 1a). [Extracted from the article]