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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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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2020-08-01
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| シリーズ: | BMC Pediatrics |
| 主題: | |
| オンライン･アクセス: | http://link.springer.com/article/10.1186/s12887-020-02288-2 |
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