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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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| Veröffentlicht in: | BMC Pediatr |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2020
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| Schlagworte: | |
| Online Zugang: | 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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