Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

Autor:	S, von Gernet, A, Golla, Y, Ehrenfels, S, Schuffenhauer, J D, Fairley
Rok vydání:	2000
Předmět:	Male Genotype Facies Infant Receptor Protein-Tyrosine Kinases Acrocephalosyndactylia Receptors Fibroblast Growth Factor Phenotype Treatment Outcome Mutation Humans Female Syndactyly Receptor Fibroblast Growth Factor Type 2 Craniotomy
Zdroj:	Clinical genetics. 57(2)
ISSN:	0009-9163
Popis:	Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast growth factor receptor 2 gene (FGFR2). The genotype-phenotype correlations of 21 patients with Apert syndrome were analysed as to the craniofacial appearance following surgery and the degree of syndactlyly. The craniofacial appearance following craniofacial surgery was better in patients with the P253R mutation, whereas these patients showed a more pronounced severity of the syndactyly.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2e8576a4219a37a3b0d08504d5c8a085 https://pubmed.ncbi.nlm.nih.gov/10735635 Zobrazit plný text záznamu Plný text