Genetic & Genomic MedicinemedRxivPreprint
Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
Marcelo Melo, Elizabeth S. Phillippi, Thomas O. Moninger…·Hatem El‐Shanti
The paper identifies a heterozygous KRT32 variant causing autosomal dominant loose anagen hair syndrome and shows it reduces binding affinity to KRT82, impairing hair shaft anchoring.
DOI 10.1101/2025.05.02.25326729