Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L.
Hum Mol Genet. 2005 Jun 1;14(11):1475-88. Epub 2005 Apr 20.PMID: 15843405 [PubMed - indexed for MEDLINE]Free ArticleRelated citations