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

Pharmaceutical Sciences

Research & Reviews: Journal of Pharmacognosy and Phytochemistry

Author(s): Bouazzi H, Lesca G, Trujillo C, Alwasiyah MK, Munnich A

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Abstract 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.
This article was published in Clin Case Rep and referenced in Research & Reviews: Journal of Pharmacognosy and Phytochemistry

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