SETD5 gene variant associated with mild intellectual disability - a case report
نویسندگان
چکیده
منابع مشابه
SETD5 gene variant associated with mild intellectual disability - a case report.
The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with congen...
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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: Genetics and Molecular Research
سال: 2017
ISSN: 1676-5680
DOI: 10.4238/gmr16029615