×
About 380 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  187 results

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...

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homoz...
https://doi.org/10.1002/ajmg.a.61614
American Journal of Medical Genetics. Part A REFERENCES; Carvalho DR, Speck-Martins CE et. al.

May 18th, 2020 - Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we ...

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216528
BMC Nephrology; Xiong S, Shuai L et. al.

May 12th, 2020 - Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly prop...

see more →

Clinicaltrials.gov  191 results

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...

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homoz...
https://doi.org/10.1002/ajmg.a.61614
American Journal of Medical Genetics. Part A REFERENCES; Carvalho DR, Speck-Martins CE et. al.

May 18th, 2020 - Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we ...

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216528
BMC Nephrology; Xiong S, Shuai L et. al.

May 12th, 2020 - Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly prop...

see more →

Patient Education  2 results see all →