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- Title
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
- Authors
McGrath, John A.; Duijf, Pascal H.G.; Doetsch, Volker; Irvine, Alan D.; de Waal, Rob; Vanmolkot, Kaate R.J.; Wessagowit, Vesarat; Kelly, Alexander; Atherton, David J.; Griffiths, W. Andrew D.; Orlow, Seth J.; van Haeringen, Arie; Ausems, Margreet G.E.M.; Yang, Annie; McKeon, Frank; Bamshad, Michael A.; Brunner, Han G.; Hamel, Ben C.J.; van Bokhoven, Hans
- Abstract
Examines whether heterozygous mutations in the p63 gene are the major cause of Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Amino acid substitutions in the sterile alpha motif domain; Effect of missense mutations on protein-protein interactions; Genotype-phenotype correlation between AEC and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome.
- Subjects
ECTODERMAL dysplasia; SYNDROMES; GENETIC mutation; GENETICS
- Publication
Human Molecular Genetics, 2001, Vol 10, Issue 3, p221
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/10.3.221