A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
作者信息
Machado Renato A, Ferreira Shirlene B, Martins Luciane, Ribeiro Mariana M, Martelli Daniella R B, Coletta Ricardo D, Aguiar Marcos J B, Martelli-Júnior Hercílio
机构信息
Department of Oral Diagnosis, Piracicaba Dental School, State University of Campinas, Piracicaba, São Paulo, Brazil.
Health Science Program, State University of Montes Claros, Unimontes, Minas Gerais State, Brazil.
出版信息
Am J Med Genet A. 2017 Oct;173(10):2838-2843. doi: 10.1002/ajmg.a.38389. Epub 2017 Aug 16.
PMID:28815901
Abstract
摘要
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