Langer Mesomelic Dysplasia Latest Advances

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Journal: International journal of molecular sciences

Published: November 29, 2025

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

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Journal: PeerJ

Published: January 08, 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

Langer Mesomelic Dysplasia Latest Advances

Find the Latest Research About Langer Mesomelic Dysplasia

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.

RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.

Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.

Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.

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

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

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

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.

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.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy.