Leri-Weill Dyschondrosteosis Latest Advances
Find the Latest Research About Leri-Weill Dyschondrosteosis
Last Updated: 04/28/2026
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Found 70 publications
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
Journal: Genes
Published: February 28, 2023
The Half-Empty Glass of GH Treatment in Dyschondrosteosis.
Journal: Hormone research in paediatrics
Published: June 14, 2022
Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis.
Journal: JAMA ophthalmology
Published: June 24, 2021
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Journal: Molecular genetics & genomic medicine
Published: November 16, 2020
Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 14, 2020
A balanced opinion? Considering the role of the external clinical advisor in ACC processes.
Journal: The New Zealand medical journal
Published: May 22, 2020
Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.
Journal: Journal of diabetes investigation
Published: April 29, 2020
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Journal: European journal of human genetics : EJHG
Published: January 14, 2020
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
Journal: American journal of medical genetics. Part A
Published: March 28, 2019
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Journal: Cytogenetic and genome research
Published: October 25, 2018
Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.
Journal: Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
Published: September 18, 2018
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.
Journal: Scientific reports
Published: June 22, 2017
Last Updated: 04/28/2026