Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction

BackgroundFilamin A (FLNA) mutations are associated with the development of numerous diseases and disorders. Although recent studies have shed light on genotype–phenotype relationships, the evidence remains fragmented.Case presentationHerein, we report the case of a male infant with an FLNA nonsense...

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Autors principals:	Jie Liu, Xin Pan, Lina Qiao, Yi Liao, Zhongqiang Liu
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2026-01-01
Col·lecció:	Frontiers in Genetics
Matèries:	congenital short bowel syndrome filamin A lung disease multi-organ involvement mutation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1693117/full
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