Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report.

Nami Mohammadian KhonsariSahar Mohammad Poor NamiBenyamin Hakak-ZargarTessa Voth

Published in: Molecular and cellular pediatrics (2020)

We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

Keyphrases

rare case
early onset
chronic obstructive pulmonary disease
copy number
genome wide
atomic force microscopy
cancer therapy
bioinformatics analysis
genome wide identification
growth hormone
sleep quality
dna methylation
drug induced
drug delivery
depressive symptoms
transcription factor
single molecule
high speed