X-Linked Spondyloepiphyseal Dysplasia Tarda Latest Advances

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Journal: Molecular imaging and radionuclide therapy

Published: December 01, 2025

Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 13, 2025

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Journal: International journal of molecular sciences

Published: September 12, 2025

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Journal: Pediatric transplantation

Published: August 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

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Journal: Molecular genetics & genomic medicine

Published: August 27, 2025

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Journal: International orthopaedics

Published: August 12, 2025

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

Journal: International journal of molecular sciences

Published: August 05, 2025

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica.

Journal: Journal of investigative medicine high impact case reports

Published: July 17, 2025

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Journal: International journal of molecular sciences

Published: July 14, 2025

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Journal: Genes

Published: July 02, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Journal: International journal of molecular sciences

Published: June 03, 2025

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99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review

Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

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.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica.

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica.

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.