X-Linked Spondyloepiphyseal Dysplasia Tarda Latest Advances

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Journal: JBJS case connector

Published: April 10, 2026

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Journal: BMJ case reports

Published: February 20, 2026

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

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

Published: February 01, 2026

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Journal: Journal of genetics

Published: January 22, 2026

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Journal: Journal of oral science

Published: January 18, 2026

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Journal: Prague medical report

Published: January 02, 2026

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Journal: BMJ case reports

Published: December 18, 2025

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

Journal: Frontiers in genetics

Published: December 09, 2025

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

Journal: Molecular imaging and radionuclide therapy

Published: December 01, 2025

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

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

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

Journal: Frontiers in immunology

Published: November 06, 2025

X-Linked Spondyloepiphyseal Dysplasia Tarda Latest Advances

Find the Latest Research About X-Linked Spondyloepiphyseal Dysplasia Tarda

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

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.

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.

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

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.