Código QR (código de barras bidimensional)

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...

Fuld beskrivelse

Na minha lista:
Principais autores: Jie Liu, Xin Pan, Lina Qiao, Yi Liao, Zhongqiang Liu
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-01-01
Serier:Frontiers in Genetics
Fag:
congenital short bowel syndrome
filamin A
lung disease
multi-organ involvement
mutation
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2025.1693117/full
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker