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Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
Clin Genet. 2000 Feb; 57(2):137-9.CG

Abstract

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.

Authors+Show Affiliations

Abteilung für plastische Chirurgie, Städt. Krankenhaus Bogenhausen, München, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10735635

Citation

von Gernet, S, et al. "Genotype-phenotype Analysis in Apert Syndrome Suggests Opposite Effects of the Two Recurrent Mutations On Syndactyly and Outcome of Craniofacial Surgery." Clinical Genetics, vol. 57, no. 2, 2000, pp. 137-9.
von Gernet S, Golla A, Ehrenfels Y, et al. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet. 2000;57(2):137-9.
von Gernet, S., Golla, A., Ehrenfels, Y., Schuffenhauer, S., & Fairley, J. D. (2000). Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clinical Genetics, 57(2), 137-9.
von Gernet S, et al. Genotype-phenotype Analysis in Apert Syndrome Suggests Opposite Effects of the Two Recurrent Mutations On Syndactyly and Outcome of Craniofacial Surgery. Clin Genet. 2000;57(2):137-9. PubMed PMID: 10735635.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. AU - von Gernet,S, AU - Golla,A, AU - Ehrenfels,Y, AU - Schuffenhauer,S, AU - Fairley,J D, PY - 2000/3/29/pubmed PY - 2000/5/20/medline PY - 2000/3/29/entrez SP - 137 EP - 9 JF - Clinical genetics JO - Clin Genet VL - 57 IS - 2 N2 - 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. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/10735635/Genotype_phenotype_analysis_in_Apert_syndrome_suggests_opposite_effects_of_the_two_recurrent_mutations_on_syndactyly_and_outcome_of_craniofacial_surgery_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2000&volume=57&issue=2&spage=137 DB - PRIME DP - Unbound Medicine ER -