X-Linked Spondyloepiphyseal Dysplasia Tarda Latest Advances

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

Journal: The Journal of international medical research

Published: June 18, 2026

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

Journal: JBJS case connector

Published: April 10, 2026

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics

Published: March 27, 2026

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Journal: Genes

Published: March 22, 2026

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Journal: Genes

Published: March 02, 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

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

Journal: BMC pediatrics

Published: February 09, 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 Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

Journal: Congenital anomalies

Published: January 20, 2026

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

Journal: Journal of oral science

Published: January 18, 2026

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Journal: Frontiers in immunology

Published: January 15, 2026

X-Linked Spondyloepiphyseal Dysplasia Tarda Latest Advances

Find the Latest Research About X-Linked Spondyloepiphyseal Dysplasia Tarda

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

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.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

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.

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

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 Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

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

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

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.