Case of 15q26-qter deletion associated with a Prader-Willi phenotype

Autor: Santos, Jéssica Fernandes dos, Acosta, Angelina Xavier, Scheibler, Gabriela Gayer, Pitanga, Paula Monique Leite, Alves, Esmeralda Santos, Meira, Joanna Goes Castro, Zanardo, Évelin Aline, Kulikowski, Leslie Domenici, Lima, Renata Lúcia Leite Ferreira de, Carvalho, Acácia Fernandes Lacerda de

Publikováno v: In European Journal of Medical Genetics August 2020 63(8)

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

Autor: Meira,Joanna Goes Castro, Sarno,Manoel Alfredo Curvelo, Faria,Ágatha Cristhina Oliveira, Yamamoto,Guilherme Lopes, Bertola,Débora Romeo, Scheibler,Gabriela Gayer, Tavares,Dione Fernandes, Acosta,Angelina Xavier

Publikováno v: Revista Brasileira de Ginecologia e Obstetrícia v.40 n.9 2018
Revista brasileira de ginecologia e obstetrícia
Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (FEBRASGO)
instacron:FEBRASGO

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 mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::2b6f567769f6c078b6d0fb750cd8cb1a
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570

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