Pfeiffer syndrome : clinical and genetic findings in five Brazilian families

Pfeiffer syndrome : clinical and genetic findings in five Brazilian families

Hercilio-Martelli Junior, Sibele-Nascimento de Aquino, Renato-Assis Machado, Leticia-Lima Leao, Ricardo-Della Coletta, Marcos-Jose Burle-Aguiar

ARTIGO

Inglês

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study...

FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE MINAS GERAIS - FAPEMIG

CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQ

Fechado

Pfeiffer syndrome : clinical and genetic findings in five Brazilian families

Hercilio-Martelli Junior, Sibele-Nascimento de Aquino, Renato-Assis Machado, Leticia-Lima Leao, Ricardo-Della Coletta, Marcos-Jose Burle-Aguiar


										

Pfeiffer syndrome : clinical and genetic findings in five Brazilian families

Hercilio-Martelli Junior, Sibele-Nascimento de Aquino, Renato-Assis Machado, Leticia-Lima Leao, Ricardo-Della Coletta, Marcos-Jose Burle-Aguiar

    Fontes

    Medicina oral, patología oral y cirugía bucal

    Vol. 20, no. 1 (Jan., 2015), p. E52-E58