A novel MED12 mutation associated with non-specific X-linked intellectual disability
نویسندگان
چکیده
منابع مشابه
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype-phenotype correlations.
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2015
ISSN: 2054-345X
DOI: 10.1038/hgv.2015.18