Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX-Reference-Cited by-同舟云学术

Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX

Published:2024-06-24 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Miranda Valancy^ORCID,Sabeh Pascale^ORCID,Seiltgens Cristian^ORCID,Molidperee Sirinart,Janelle Chantal,Lemyre Emmanuelle,Campeau Philippe M.^ORCID

Funder

Fonds de Recherche du Québec - Santé

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01646-3.pdf

Reference19 articles.

1. Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernandez B, Barreda-Bonis AC, Liu P, et al. Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012;49:442–50.

2. Binder G, Rappold GA. SHOX deficiency disorders. In: Adam MP, Mirzaa GM, Pagon RA, et al. editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993–2024.

3. Spurna Z, Capkova P, Srovnal J, Duchoslavova J, Punova L, Aleksijevic D, et al. Clinical impact of variants in non-coding regions of SHOX - current knowledge. Gene. 2022;818:146238.

4. Bunyan DJ, Taylor EJ, Maloney VK, Blyth M. Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect. Am J Med Genet A. 2014;164A:2764–8.

5. Benito-Sanz S, Aza-Carmona M, Rodriguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, et al. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Eur J Hum Genet. 2012;20:125–7.