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

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 perinatal dea...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Cannaerts, Elyssa, Shukla, Anju, Hasanhodzic, Mensuda, Alaerts, Maaike, Schepers, Dorien, Van Laer, Lut, Girisha, Katta M., Hojsak, Iva, Loeys, Bart, Verstraeten, Aline
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6083619/
https://ncbi.nlm.nih.gov/pubmed/30089473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0655-0
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