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Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
Roscioli, T; Flanagan, S; Mortimore, R J; Kumar, P; Weedon, D; Masel, J; Lewandowski, R; Hyland, V; Glass, I A.
Affiliation
  • Roscioli T; Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia. rosciolit@hotmail.com
Am J Med Genet ; 101(3): 187-94, 2001 Jul 01.
Article in En | MEDLINE | ID: mdl-11424131
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Collection: 01-internacional Database: MEDLINE Main subject: Skin / Protein-Tyrosine Kinases / Receptors, Fibroblast Growth Factor / Craniosynostoses Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Am J Med Genet Year: 2001 Document type: Article Affiliation country: Australia Country of publication: Estados Unidos
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Skin / Protein-Tyrosine Kinases / Receptors, Fibroblast Growth Factor / Craniosynostoses Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Am J Med Genet Year: 2001 Document type: Article Affiliation country: Australia Country of publication: Estados Unidos