Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

BACKGROUND: Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flacc...

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Detalles Bibliográficos
Autores principales: Iqbal, Nida S., Jascur, Thomas A., Harrison, Steven M., Edwards, Angelena B., Smith, Luke T., Choi, Erin S., Arevalo, Michelle K., Chen, Catherine, Zhang, Shaohua, Kern, Adam J., Scheuerle, Angela E., Sanchez, Emma J., Xing, Chao, Baker, Linda A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035669/
https://www.ncbi.nlm.nih.gov/pubmed/32085749
http://dx.doi.org/10.1186/s12881-020-0973-x

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