A novel 8-bp duplication in ADAT3 causes mild intellectual disability
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چکیده
منابع مشابه
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 case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2018
ISSN: 2054-345X
DOI: 10.1038/s41439-018-0007-9