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

• Egile Nagusiak: Nida S. Iqbal (Egilea), Thomas A. Jascur (Egilea), Steven M. Harrison (Egilea), Angelena B. Edwards (Egilea), Luke T. Smith (Egilea), Erin S. Choi (Egilea), Michelle K. Arevalo (Egilea), Catherine Chen (Egilea), Shaohua Zhang (Egilea), Adam J. Kern (Egilea), Angela E. Scheuerle (Egilea), Emma J. Sanchez (Egilea), Chao Xing (Egilea), Linda A. Baker (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-02-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...