Article

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

2021-03-23

Abstract excerpt

Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases IGF2 expression and produces a Silver Russell syndrome like phenotype. Here, we describe the phenotype and molecular features of a 26 m...

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Literature Corpus work: 6bb372c1-2800-5c9a-b768-0ab5045fa599
DOI: 10.22541/au.160507814.44110683/v2

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