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

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

Abstract 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) wrinkl...

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Bibliographic Details
Main Authors: Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing, Linda A. Baker
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Medical Genetics
Subjects:
Prune belly syndrome
FLNA
Sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-020-0973-x

Internet

http://link.springer.com/article/10.1186/s12881-020-0973-x

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