Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2145
Abstract: 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… read more here.
Keywords: melnick needles; mutation flna; needles syndrome; flna attenuating ... See more keywords
Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of oral and maxillofacial surgery"
DOI: 10.1016/j.ijom.2017.12.001
Abstract: Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen… read more here.
Keywords: needles syndrome; surgery; report; melnick needles ... See more keywords
A family of Melnick-Needles syndrome: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pediatrics"
DOI: 10.1186/s12887-020-02288-2
Abstract: Background Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe three members… read more here.
Keywords: needles syndrome; family; case; report ... See more keywords