Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of apert syndrome

Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal...

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Autores:
Tipo de recurso:
Fecha de publicación:
2015
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23734
Acceso en línea:
https://repository.urosario.edu.co/handle/10336/23734
Palabra clave:
Fibroblast growth factor receptor 2
Fibroblast growth factor receptor 2
Acrocephalosyndactyly
Article
Brachycephaly
Case report
Computer assisted tomography
Exon
Fgfr2 gene
Gene
Gene mutation
Human
Hypertelorism
Male
Midface hypoplasia
Molecular diagnosis
Polymerase chain reaction
Skin aplasia
Syndactyly
Acrocephalosyndactyly
Dna sequence
Exon
Female
Gene amplification
Genetics
Mutation
Pathophysiology
Acrocephalosyndactylia
Exons
Female
Gene amplification
Humans
Male
Mutation
Apert syndrome
Cleft palate
Fgfr2 gene
Intron
Mutation
fibroblast growth factor
dna
type 2
Receptor
Sequence analysis
Rights
License
Abierto (Texto Completo)