Article
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS genetics - 1 Jan 2017
Muggenthaler Martina M A, Chowdhury Biswajit, Hasan S Naimul, Cross Harold E, Mark Brian, Harlalka Gaurav V, Patton Michael A, Ishida Miho, Behr Elijah R, Sharma Sanjay, Zahka Kenneth, Faqeih Eissa, Blakley Brian, Jackson Mike, Lees Melissa, Dolinsky Vernon, Cross Leroy, Stanier Philip, Salter Claire, Baple Emma L, Alkuraya Fowzan S, Crosby Andrew H, Triggs-Raine Barbara, Chioza Barry A
Abstract excerpt
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2,...
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