A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene / 소아과
Korean Journal of Pediatrics
;
: 774-777, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-225653
ABSTRACT
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polegar
/
Acrocefalossindactilia
/
Dedos do Pé
/
Craniossinostoses
/
Receptor Tipo 1 de Fator de Crescimento de Fibroblastos
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Nascido Vivo
/
Biologia Molecular
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
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