Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations
BackgroundSnijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in CHD3 gene. There is limited information on SNIBCPS and few studies on its pathogenic gene CHD3.Met...
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| Principais autores: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
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Frontiers Media S.A.
2024-07-01
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| Series: | Frontiers in Genetics |
| Assuntos: | |
| Acceso en liña: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1347933/full |
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