Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
BackgroundCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
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Frontiers Media S.A.
2024-05-01
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| シリーズ: | Frontiers in Pediatrics |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fped.2024.1370790/full |
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