A family of Melnick-Needles syndrome: a case report

• Main Authors: Chi Hoon Oh (Author), Chang Ho Lee (Author), So Young Kim (Author), So-Young Lee (Author), Hak Hoon Jun (Author), Soonchul Lee (Author)
• Format: Book
• Published: BMC, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...