Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

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 describ...

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Detalles Bibliográficos
Autores principales: Júnior, Hercílio-Martelli, de Aquino, Sibele-Nascimento, Machado, Renato-Assis, Leão, Letícia-Lima, Coletta, Ricardo- Della, Burle-Aguiar, Marcos-José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medicina Oral S.L. 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320421/
https://www.ncbi.nlm.nih.gov/pubmed/25129254
http://dx.doi.org/10.4317/medoral.20032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320421/
https://www.ncbi.nlm.nih.gov/pubmed/25129254
http://dx.doi.org/10.4317/medoral.20032

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