Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage

BACKGROUND: Filamin A, encoded by the X‐linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large spectrum of congenital malformations during embryonic development, including Melnick–Needles syndrome (MNS). Howe...

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Detalles Bibliográficos
Autores principales: Luo, Xin, Yang, Zailin, Zeng, Jing, Chen, Jing, Chen, Ningxuan, Jiang, Xiaoyan, Wei, Qinlv, Yi, Ping, Xu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178794/
https://www.ncbi.nlm.nih.gov/pubmed/36734119
http://dx.doi.org/10.1002/mgg3.2145

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