• <em>NPR2</em> gene variants in familial short stature: a single-center study
• A balanced opinion? Considering the role of the external clinical advisor in ACC processes
• A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome
• A Case of Syndromic X-linked Ichthyosis with Leri-Weill Dyschondrosteosis
• A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
• A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene
• A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX
• A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX
• A Track Record on SHOX: From Basic Research to Complex Models and Therapy
• Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report
• All Madelung deformities are not endocrine
• Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome
• Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation
• Bone dysplasias: the A, B, C of radiographic interpretation
• Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
• Clinical and molecular characterization of Chilean patients with Leri-Weill dyschondrosteosis
• Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS)
• Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Leri-Weill Dyschondrosteosis
• Clinical image of bilateral Madelung deformity
• Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)
• 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
• Coexistence of dyschondrosteosis associated to <em>SHOX</em> deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
• Comparison of SHOX and associated elements duplications distribution between patients (Leri-Weill dyschondrosteosis/idiopathic short stature) and population sample
• Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Leri-Weill dyschondrosteosis
• Cytogenetic and Molecular Genetic Characterization of Children with Short Stature
• Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis
• Detection of <em>SHOX</em> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
• Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
• Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
• Diagnostics of SHOX gene rearrangement in 46,XX women with idiopathic short stature
• Different approaches in the molecular analysis of the SHOX gene dysfunctions
• DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations
• Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
• Epidemiology of SHOX deficiency
• Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis
• FGFR3 is a target of the homeobox transcription factor SHOX in limb development
• Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population
• Genotypes and phenotypes of children with SHOX deficiency in France
• GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency
• Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency
• HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
• Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Leri-Weill Dyschondrosteosis
• Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
• Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes
• 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
• Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia
• Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
• Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin
• Identification of novel SHOX target genes in the developing limb using a transgenic mouse model
• Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature
• Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
• Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
• In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish
• Knee X-Ray in Short Stature: Helpful Indicator to Diagnose SHOX Deficiency
• Langer mesomelic dysplasia in early fetuses: two cases and a literature review
• Langer's mesomelic dysplasia: a case report
• Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <em>SHOX</em> Splice-Site Variant
• Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant
• Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan
• Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation
• Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics
• Metabolic syndrome coexists with adult Leri-Weill dyschondrosteosis: A case report
• New roles of SHOX as regulator of target genes
• NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development
• Overcoming the barriers to diagnosis of Morquio A syndrome
• Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study
• Radiological and clinical analysis of Madelung's deformity in children
• Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis
• RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE
• Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report
• Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature
• Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
• Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
• Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial
• Short stature and <em>SHOX</em> (Short stature homeobox) variants-efficacy of screening using various strategies
• Short stature due to SHOX deficiency: genotype, phenotype, and therapy
• Short stature homeoboxcontaining gene and idiopathic short stature
• SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis
• SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature
• SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
• SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
• SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature
• SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
• SHOX triggers the lysosomal pathway of apoptosis via oxidative stress
• SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts
• SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts
• Shox2 function couples neural, muscular and skeletal development in the proximal forelimb
• Shox2 regulates progression through chondrogenesis in the mouse proximal limb
• Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
• Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
• The Half-Empty Glass of GH Treatment in Dyschondrosteosis
• The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures
• The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis
• The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study
• The role of Shox2 in SAN development and function
• The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011)
• The SHOX region and its mutations
• Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan
• Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients
• Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency