Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Abstract

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