Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene | BMC Medical Genetics | Full Text

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene | BMC Medical Genetics | Full Text

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

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 isol...

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 and Linda A. Baker

Citation:BMC Medical Genetics 2020 21:38

Content type:Research article

Published on: 21 February 2020

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