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About 384 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  189 results

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...

X-Linked Spondyloepiphyseal Dysplasia Tarda - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/sedt/

Nov 4th, 2020 - In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have nor...

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectr...
https://doi.org/10.1002/ajmg.a.61817
American Journal of Medical Genetics. Part A REFERENCES; Travessa AM, Díaz-González F et. al.

Aug 28th, 2020 - Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. We describe an 8-year-old boy who presented with short trunk, C2-C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, a...

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260818
BMC Medical Genetics; Zhang C, Du C et. al.

May 30th, 2020 - Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoa...

A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skelet...
https://doi.org/10.1016/j.bone.2020.115450
Bone Zhang B, Wang C et. al.

May 25th, 2020 - Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. However, the pathogenic mec...

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Clinicaltrials.gov  193 results

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...

X-Linked Spondyloepiphyseal Dysplasia Tarda - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/sedt/

Nov 4th, 2020 - In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have nor...

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectr...
https://doi.org/10.1002/ajmg.a.61817
American Journal of Medical Genetics. Part A REFERENCES; Travessa AM, Díaz-González F et. al.

Aug 28th, 2020 - Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. We describe an 8-year-old boy who presented with short trunk, C2-C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, a...

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260818
BMC Medical Genetics; Zhang C, Du C et. al.

May 30th, 2020 - Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoa...

A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skelet...
https://doi.org/10.1016/j.bone.2020.115450
Bone Zhang B, Wang C et. al.

May 25th, 2020 - Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. However, the pathogenic mec...

see more →

Patient Education  2 results see all →