A variant of uncertain significance in HMGA2 gene, in a child with Silver-Russell syndrome like phenotype: A case report
نویسندگان
چکیده
Silver-Russell Syndrome 5 (SRS5) is characterized by asymmetric Intrauterine Growth Restriction (IUGR), poor postnatal growth
منابع مشابه
Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
INTRODUCTION We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X ...
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ژورنال
عنوان ژورنال: Journal of clinical images and medical case reports
سال: 2023
ISSN: ['2766-7820']
DOI: https://doi.org/10.52768/2766-7820/2405