Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

@inproceedings{Bouazzi2015NonsyndromicXI,
  title={Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]},
  author={Habib Bouazzi and G. Lesca and Carlos Castillo Trujillo and Mohammad Khalid Alwasiyah and Arnold Munnich},
  booktitle={Clinical case reports},
  year={2015}
}
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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