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About 313 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  155 results

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
https://doi.org/10.1002/ajmg.a.61965
American Journal of Medical Genetics. Part A REFERENCES; Reinsch B, Grand K et. al.

Nov 28th, 2020 - RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old m...

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyse...
https://doi.org/10.1097/BPO.0000000000001708
Journal of Pediatric Orthopedics; Andrzejewski A, Péjin Z et. al.

Nov 9th, 2020 - Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current ...

Mutations in COMP cause familial carpal tunnel syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371736
Nature Communications; Li C, Wang N et. al.

Jul 20th, 2020 - Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we repor...

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251693
BMC Medical Genetics; Shao J, Zhao S et. al.

May 28th, 2020 - Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP m...

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Clinicaltrials.gov  157 results

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
https://doi.org/10.1002/ajmg.a.61965
American Journal of Medical Genetics. Part A REFERENCES; Reinsch B, Grand K et. al.

Nov 28th, 2020 - RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old m...

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyse...
https://doi.org/10.1097/BPO.0000000000001708
Journal of Pediatric Orthopedics; Andrzejewski A, Péjin Z et. al.

Nov 9th, 2020 - Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current ...

Mutations in COMP cause familial carpal tunnel syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371736
Nature Communications; Li C, Wang N et. al.

Jul 20th, 2020 - Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we repor...

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251693
BMC Medical Genetics; Shao J, Zhao S et. al.

May 28th, 2020 - Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP m...

see more →

Patient Education  1 results see all →