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Last Updated: 01/07/2026

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Found 354 publications

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.

Journal: Molecular imaging and radionuclide therapy
Published: December 01, 2025

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Journal: Clinical genetics
Published: July 11, 2025

Posterior Spinal Fixation Using a Patient-Specific 3D-Printed Guide for a Sixth Thoracic Vertebral Fracture With Ankylosis and Severe Bone Sclerosis Due to Spondyloepiphyseal Dysplasia Congenita.

Posterior Spinal Fixation Using a Patient-Specific 3D-Printed Guide for a Sixth Thoracic Vertebral Fracture With Ankylosis and Severe Bone Sclerosis Due to Spondyloepiphyseal Dysplasia Congenita.

Journal: Cureus
Published: May 01, 2025

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Journal: Nature communications
Published: April 30, 2024

Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey: A Case Report.

Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey: A Case Report.

Journal: JBJS case connector
Published: April 05, 2024

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

Journal: American journal of medical genetics. Part A
Published: March 29, 2024

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Journal: Molecular syndromology
Published: December 11, 2023

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

Journal: Molecular syndromology
Published: November 21, 2023

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

Journal: Spine deformity
Published: August 18, 2023

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

Journal: World journal of orthopedics
Published: August 14, 2023

COMBINED, NOVEL MANAGEMENT OF BILATERAL VARUS HIP DEFORMITY USING "EIGHT-PLATE" IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.

COMBINED, NOVEL MANAGEMENT OF BILATERAL VARUS HIP DEFORMITY USING "EIGHT-PLATE" IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.

Journal: Acta clinica Croatica
Published: August 01, 2023

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Journal: Frontiers in genetics
Published: May 04, 2023
Showing 1-12 of 354

Last Updated: 01/07/2026