Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.
作者信息
Bertola Debora, Passos-Bueno Maria Rita, Pereira Alexandre, Kim Chong, Morgan Tim, Robertson Stephen P
机构信息
Faculdade de Medicina da Universidade de São Paulo, Unidade de Genética do Instituto da Criança, São Paulo, Brazil.
出版信息
Am J Med Genet A. 2015 May;167A(5):1161-4. doi: 10.1002/ajmg.a.36981. Epub 2015 Mar 28.
PMID:25820619
Abstract
摘要
Zotero 插件