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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shiraz University of Medical Sciences
2019-05-01
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| Series: | Iranian Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://ijms.sums.ac.ir/article_44982_963736a971a2580c4f033dd561e1435d.pdf |