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Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray, G; Savarirayan, R; Cox, T C; Stojkoski, C; McNeil, R; Bankier, A; Bateman, J F; Roscioli, T; Gardner, R J M; Lamandé, S R.
J Med Genet ; 42(8): 656-62, 2005 Aug.
Article in En | MEDLINE | ID: mdl-16061565
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skull / Abnormalities, Multiple / Craniosynostoses / Receptor, Fibroblast Growth Factor, Type 2 / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2005 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skull / Abnormalities, Multiple / Craniosynostoses / Receptor, Fibroblast Growth Factor, Type 2 / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2005 Document type: Article