microphthalmia, syndromic type 8

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microphthalmia, syndromic type 8

A very rare congenital syndrome (OMIM:601349) characterised by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and possibly mental retardation.

Molecular pathology
Caused by defects of SNX3, which encodes a phosphoinositide-binding protein required for multivesicular body formation and protein trafficking between cellular compartments.
References in periodicals archive ?
Twelve percent of MMEP measurements were reported as nondetects, and for these we assigned the sample-specific MRL (U.S.
We detected all but one of the analytes in 100% of the samples; MMEP was detected in 88% of samples.
In the mixed-effects model, we observed significant differences in urinary concentrations between adults and children across the study period for MEP, MBUP, MBZP, and MMEP (p < 0.05; data not shown).
The estimated ICCs range from approximately zero for MEP to 0.27 for MMEP, indicating substantial variation within families (data not shown).
We observed significant variation in MEOHP and MEHHP among families after the intervention (data not shown) and variation in MMEP among families during and after the intervention (Kruskal-Wallis test, p < 0.05).