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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath, J A; Duijf, P H; Doetsch, V; Irvine, A D; de Waal , R; Vanmolkot, K R; Wessagowit, V; Kelly, A; Atherton, D J; Griffiths, W A; Orlow, S J; van Haeringen, A; Ausems, M G; Yang, A; McKeon, F; Bamshad, M A; Brunner, H G; Hamel, B C; van Bokhoven, H.
Affiliation
  • McGrath JA; Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, St Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, UK.
Hum Mol Genet ; 10(3): 221-9, 2001 Feb 01.
Article in En | MEDLINE | ID: mdl-11159940
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Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Abnormalities, Multiple / Blepharitis / Trans-Activators / Ankylosis / Membrane Proteins Type of study: Prognostic_studies Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: Country of publication:
Search on Google
Add to My VHL
Print
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Abnormalities, Multiple / Blepharitis / Trans-Activators / Ankylosis / Membrane Proteins Type of study: Prognostic_studies Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: Country of publication: