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

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 much more s...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Revinter Publicações Ltda 2018
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316906/
https://www.ncbi.nlm.nih.gov/pubmed/30231296
http://dx.doi.org/10.1055/s-0038-1670684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316906/
https://www.ncbi.nlm.nih.gov/pubmed/30231296
http://dx.doi.org/10.1055/s-0038-1670684

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