A family of Melnick-Needles syndrome: a case report

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 phenotypic s...

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Détails bibliographiques
Publié dans:BMC Pediatr
Auteurs principaux: Oh, Chi Hoon, Lee, Chang Ho, Kim, So Young, Lee, So-Young, Jun, Hak Hoon, Lee, Soonchul
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7436951/
https://ncbi.nlm.nih.gov/pubmed/32814550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02288-2
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