Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
Am J Med Genet A
; 138A(3): 278-81, 2005 Oct 15.
Article
en En
| MEDLINE
| ID: mdl-16158432
ABSTRACT
Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with syndromic and non-syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific FGFR2 mutation (p.Ser351Cys, c.1231 C --> G) with anterior chamber dysgenesis. Affected patients had a severe craniofacial phenotype and clinical course. A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported. The case provides further evidence that FGFR2 has a role in anterior chamber embryogenesis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Craneosinostosis
/
Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos
/
Cámara Anterior
Límite:
Child
/
Humans
/
Infant
/
Male
/
Middle aged
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Reino Unido