Condition: Alopecia universalis congenita
rs121434448 in
HR gene and
Alopecia universalis congenita
PMID 9445480 1998 Alopecia universalis associated with a mutation in the human hairless gene.
PMID 12406339 2002 A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.
PMID 9736769 1998 Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
PMID 24334705 2014 Hairless is a histone H3K9 demethylase.