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About 400 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  197 results

Stickler Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/stickler/

May 5th, 2021 - Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as...

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
https://doi.org/10.1002/ajmg.a.62236
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.

Apr 28th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982231
Medicine Zhang L, Wang J et. al.

Mar 17th, 2021 - X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic vari...

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese fam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059726
Journal of Clinical Laboratory Analysis; Zhou T, Yang X et. al.

Feb 16th, 2021 - Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other feat...

Radiologic Features of Type II and Type XI Collagenopathies.
https://doi.org/10.1148/rg.2021200075
Radiographics : a Review Publication of the Radiological ... Handa A, Grigelioniene G et. al.

Nov 13th, 2020 - Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene (COL2A1) lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplas...

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Clinicaltrials.gov  201 results

Stickler Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/stickler/

May 5th, 2021 - Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as...

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
https://doi.org/10.1002/ajmg.a.62236
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.

Apr 28th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982231
Medicine Zhang L, Wang J et. al.

Mar 17th, 2021 - X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic vari...

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese fam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059726
Journal of Clinical Laboratory Analysis; Zhou T, Yang X et. al.

Feb 16th, 2021 - Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other feat...

Radiologic Features of Type II and Type XI Collagenopathies.
https://doi.org/10.1148/rg.2021200075
Radiographics : a Review Publication of the Radiological ... Handa A, Grigelioniene G et. al.

Nov 13th, 2020 - Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene (COL2A1) lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplas...

see more →

Patient Education  2 results see all →