A Case of FGFR2 Exon lllc Mutation in Crouzon Syndrome
Journal of the Korean Pediatric Society
;
: 1717-1721, 1998.
Artículo
en Coreano
| WPRIM
| ID: wpr-165314
ABSTRACT
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2 (FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she was found to have Cys342Ser mutation in FGFR2 exon lllc which has been previously observed in Jackson-Weiss syndrome. This finding supports the variable expression of FGFR2 in human and allelic heterogeneity in these apparently clinically distinct craniosynostotic conditions.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Prognatismo
/
Características de la Población
/
Acrocefalosindactilia
/
Exoftalmia
/
Exones
/
Disostosis Craneofacial
/
Craneosinostosis
/
Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos
/
Hipertelorismo
Límite:
Niño
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1998
Tipo del documento:
Artículo
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