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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-08-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-020-02288-2 |