Article
Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
Molecular genetics & genomic medicine - 1 May 2023
Luo Xin, Yang Zailin, Zeng Jing, Chen Jing, Chen Ningxuan, Jiang Xiaoyan, Wei Qinlv, Yi Ping, Xu Jing
Abstract excerpt
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). However, reports of MNS, especially in males, are rare, and the pathogenesis molecular mechanisms are not well...
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