FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perin...

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Bibliographic Details
Main Authors: Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
Periventricular nodular heterotopia
Live-born males
Filaminopathy
Connective tissue disease
Online Access:http://link.springer.com/article/10.1186/s12881-018-0655-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0655-0

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