prenatal and postnatal presentation of prmt7 related syndrome

December 20, 2021 12:10 pm Published by Leave your thoughts

Expanding the phenotypic manifestations

Wolfson Medical Center report on familial whole-exome sequencing analysis, performed using Genoox software, to reveal a novel homozygous mutation in the PRMT7 gene (c.1074_1075delAG). This variant was found to co-segregated in a family with intrauterine growth restriction (IUGR)- mainly the long bones, global developmental delay, dysmorphic features and other postnatal manifestations.

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