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Last Updated: 10/31/2025
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Found 61 publications
Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.
Journal: Molecular biology reports
Published: August 28, 2025
RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.
Journal: Acta endocrinologica (Bucharest, Romania : 2005)
Published: August 21, 2023
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Journal: European journal of medical genetics
Published: June 20, 2023
Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
Journal: European journal of human genetics : EJHG
Published: January 13, 2023
Clinical impact of variants in non-coding regions of SHOX - Current knowledge.
Journal: Gene
Published: September 03, 2021
Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.
Journal: Frontiers in genetics
Published: March 31, 2021
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Journal: Journal of clinical research in pediatric endocrinology
Published: April 17, 2020
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
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Journal: BMC medical genomics
Published: January 29, 2018
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Journal: Endocrine reviews
Published: June 30, 2016
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Journal: Journal of human genetics
Published: June 06, 2016
Last Updated: 10/31/2025