Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy
نویسندگان
چکیده
منابع مشابه
Intellectual disability associated with a homozygous missense mutation in THOC6
BACKGROUND We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder....
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2017
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.163