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Last Updated: 10/31/2025
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Found 353 publications
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.
Journal: JBJS case connector
Published: April 05, 2024
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.
Journal: Molecular syndromology
Published: December 11, 2023
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.
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.
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.
Journal: Frontiers in genetics
Published: May 04, 2023
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Journal: Calcified tissue international
Published: April 22, 2023
Last Updated: 10/31/2025