Molecular biology reportsHumansShort Stature Homeobox ProteinFemaleMaleGenetic Association Studies
Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.
Moein Kohkalani, Seyyed Amin Seyyed Rezaei, Maryam Naghinejad, Elaheh Hassani, Sima Mansoori Derakhshan, Mahmoud Shekari Khaniani
Published: 202510.1007/s11033-025-11093-y
Abstract
BACKGROUND: SHOX gene haploinsufficiency is a frequent cause of idiopathic short stature (ISS), while complete deficiency of this gene product causes the severe Langer mesomelic dysplasia (LMD). Mutations in the SHOX gene are among the well-known gen…
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