Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

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.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum.

General Anesthetic Management of a Patient With Spondyloepiphyseal Dysplasia Congenita Undergoing Palatoplasty Revision.

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

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

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

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.

Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana.

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

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).

An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies.

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

Radiologic Features of Type II and Type XI Collagenopathies.

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress.

Comprehensive analysis of syndromic hearing loss patients in Japan.

[Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita].

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.

Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family.

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases.

Feeding difficulty in an infant: an unusual cause.

A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita.

Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Awake fibreoptic intubation for caesarean section in a patient with spondyloepiphyseal dysplasia congenita.

Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia.

Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival.

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Spondyloepihyseal Dysplasia Congenita.

Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita.

Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente López y Portaña (1825).

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis.

Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].

[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].

Significant clinical benefits of molecular studies in the skeletal dysplasias.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.