Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Mee, Lisa; Honkala, Heli; Kopra, Outi; Vesa, Jouni; Finnilä, Saara; Visapää, Ilona; Sang, Tzu-Kang; Jackson, George R.; Salonen, Riitta; Kestilä, Marjo; Peltonen, Leena; Human Molecular Genetics, 2005, vol. 14, issue 11, p 1475, ISSN 09646906. ISBN 09646906.

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