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Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism

Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a mu...

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Hlavní autoři: Joanna Goes Castro Meira, Manoel Alfredo Curvelo Sarno, Ágatha Cristhina Oliveira Faria, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Gabriela Gayer Scheibler, Dione Fernandes Tavares, Angelina Xavier Acosta
Médium: Artigo
Jazyk:Inglês
Vydáno: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia 2018-09-01
Edice:Revista Brasileira de Ginecologia e Obstetrícia
Témata:
atelosteogenesis
somatic mosaicism
skeletal dysplasia
FLNB
exome-target sequencing
fetal ultrasonography
On-line přístup:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570&tlng=en
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