A family of Melnick-Needles syndrome: a case report

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 of the same family with MNS, who exhibited different phen...

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Auteurs principaux: Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee
Format: Artigo
Langue:Inglês
Publié: BMC 2020-08-01
Collection:BMC Pediatrics
Sujets:
Melnick-Needles syndrome
Osteochondrodysplasia
Family
FLNA
Accès en ligne:http://link.springer.com/article/10.1186/s12887-020-02288-2
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