A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

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 1:100,000 live births. Clinical manifestations and molecular genetic testin...

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Autores principales: Lee, Min Young, Jeon, Ga Won, Jung, Ji Mi, Sin, Jong Beom
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Pediatric Society 2010
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3004491/
https://ncbi.nlm.nih.gov/pubmed/21189955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2010.53.7.774
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