Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Marvin ZieglerBianca E RussellKathrin EberhardtGregory GeiselAngelica D'AmoreMustafa SahinHarley I KornblumDarius Ebrahimi-Fakhari

Published in: Neurology. Genetics (2020)

This case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity.

Keyphrases

copy number
genome wide
gold nanoparticles
birth weight
intellectual disability
pregnancy outcomes
case report
bioinformatics analysis
genome wide identification
dna methylation
muscular dystrophy
silver nanoparticles
pregnant women
body mass index
genome wide analysis