Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample-Reference-Cited by-同舟云学术

Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample

Published:2017-09 Issue: Volume:627 Page:164-168
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Hirschfeldova Katerina^ORCID,Solc Roman^ORCID

Funder

Charles University in Prague

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference31 articles.

1. Genotype-phenotype relationship in patients and relatives with SHOX region anomalies in the French population;Auger;Horm. Res. Paediatr.,2016

2. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS);Benito-Sanz;J. Clin. Endocrinol. Metab.,2011

3. Transcriptional and translational regulation of the Leri-Weill and turner syndrome homeobox gene SHOX;Blaschke;J. Biol. Chem.,2003

4. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5kb deletion 160kb downstream with a variable phenotypic effect;Bunyan;Am. J. Med. Genet. A,2013

5. Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect;Bunyan;Am. J. Med. Genet. A,2014

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1. Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX;European Journal of Human Genetics;2024-06-24

2. Rare Dosage Abnormalities – Copy Number Variations Flanking the SHOX Gene;Acta Endocrinologica (Bucharest);2023

3. Clinical impact of variants in non-coding regions of SHOX – Current knowledge;Gene;2022-04

4. SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts;Cytogenetic and Genome Research;2022

5. Rare dosage abnormalities flanking the SHOX gene;Egyptian Journal of Medical Human Genetics;2021-12