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About 8 results

ALLMedicine™ Axial Spondylometaphyseal Dysplasia Center

Research & Reviews  4 results

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790905
PloS One; Wang Z, Iida A et. al.

Mar 14th, 2016 - Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) a...

Axial spondylometaphyseal dysplasia
https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia

Sep 13th, 2012 - Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bon...

Axial spondylometaphyseal dysplasia: additional reports.
https://doi.org/10.1002/ajmg.a.34192
American Journal of Medical Genetics. Part A; Suzuki S, Kim OH et. al.

Sep 12th, 2011 - Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted ...

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD ...
https://doi.org/10.1002/ajmg.a.33397
American Journal of Medical Genetics. Part A; Isidor B, Baron S et. al.

May 26th, 2010 - This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pe...

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Clinicaltrials.gov  4 results

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790905
PloS One; Wang Z, Iida A et. al.

Mar 14th, 2016 - Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) a...

Axial spondylometaphyseal dysplasia
https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia

Sep 13th, 2012 - Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bon...

Axial spondylometaphyseal dysplasia: additional reports.
https://doi.org/10.1002/ajmg.a.34192
American Journal of Medical Genetics. Part A; Suzuki S, Kim OH et. al.

Sep 12th, 2011 - Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted ...

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD ...
https://doi.org/10.1002/ajmg.a.33397
American Journal of Medical Genetics. Part A; Isidor B, Baron S et. al.

May 26th, 2010 - This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pe...

see more →