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Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the...
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| Publicado no: | Iran J Med Sci |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Iranian Journal of Medical Sciences
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6525729/ https://ncbi.nlm.nih.gov/pubmed/31182893 |
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