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About 301 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  149 results

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://doi.org/10.1186/s12881-020-01040-y
BMC Medical Genetics; Shao J, Zhao S et. al.

May 26th, 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...

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548
BMC Musculoskeletal Disorders; Ho TT, Tran LH et. al.

Apr 8th, 2020 - Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported ...

Multiple Epiphyseal Dysplasia
https://emedicine.medscape.com/article/1259038-overview

Nov 21st, 2019 - Practice Essentials Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the growing ends of bones. In 1935, Thomas Fairbank described a patient with irregular ossification of multiple epiphyses; in 1947, he coined the term ...

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Clinicaltrials.gov  151 results

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://doi.org/10.1186/s12881-020-01040-y
BMC Medical Genetics; Shao J, Zhao S et. al.

May 26th, 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...

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548
BMC Musculoskeletal Disorders; Ho TT, Tran LH et. al.

Apr 8th, 2020 - Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported ...

Multiple Epiphyseal Dysplasia
https://emedicine.medscape.com/article/1259038-overview

Nov 21st, 2019 - Practice Essentials Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the growing ends of bones. In 1935, Thomas Fairbank described a patient with irregular ossification of multiple epiphyses; in 1947, he coined the term ...

see more →

Patient Education  1 results see all →