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Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype–phenotype correlation
Author(s) -
Bertola Debora,
PassosBueno Maria Rita,
Pereira Alexandre,
Kim Chong,
Morgan Tim,
Robertson Stephen P.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36981
Subject(s) - medicine , medical school , genotype , demography , family medicine , pediatrics , gerontology , genetics , biology , sociology , gene , medical education
Recurrence of Frontometaphyseal Dysplasia in Two Sisters With a Mutation in FLNA and an Atypical Paternal Phenotype: Insights Into Genotype–Phenotype Correlation Debora Bertola,* Maria Rita Passos-Bueno, Alexandre Pereira, Chong Kim, Tim Morgan, and Stephen P. Robertson Faculdade de Medicina da Universidade de Sao Paulo, Unidade de Genetica do Instituto da Crianca, Sao Paulo, Brazil University of Sao Paulo, Department of Biology, Sao Paulo, Brazil Instituto do Coracao, Faculdade de Medicina da Universidade de Sâo Paulo, Cardiology, Sao Paulo, Brazil Instituto da Crianca, Pediatrics, Sao Paulo, Brazil University of Otago, Dunedin School of Medicine, Department of Women’s and Children’s Health, New Zealand University of Otago, Dunedin School of Medicine, Department of Women’s and Children’s Health, New Zealand