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

Bouazzi H., Lesca G., Trujillo C., Alwasiyah M.K., Munnich A.

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.

Clin. Case Rep. 3:604-609(2015) [PubMed] [Europe PMC]

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