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Cristina De la Torre-Sandoval
Public Documents
1
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
José Ramón Fernández-Fructuoso
and 7 more
March 23, 2021
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 months girl with clinical features of SRS and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.