Novel SHOX Variant in Léri-Weill Dyschondrosteosis with Madelung Deformity.

Madelung Deformity: A Current Concepts Review.

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

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.

Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature.

Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency.

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

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.

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

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.

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

Advances in diagnosis and treatment of Madelung's deformity.

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts.

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency.

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

Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.

Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis.

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

Thundering hoofbeats and dazzling zebras: A model integrating current rare disease perspectives in paleopathology.

Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report.

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

Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.

Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome.

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.

Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.

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

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI.

Pubertal boy presenting with mild disproportionate short stature.

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.

Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan.

SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.

DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.

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.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study.

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

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

Knee X-Ray in Short Stature: Helpful Indicator to Diagnose SHOX Deficiency.

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

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.

Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis.

Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

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

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis.

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.

Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Madelung's deformity and possible Léri-Weill dyschondrosteosis: Two cases from a Late Intermediate period tomb, Ancash, Peru.

Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.