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About 305 results

ALLMedicine Multiple Epiphyseal Dysplasia Center

Research & Reviews  151 results

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 ...

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

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 ...

A de novo frameshift FGFR1 mutation extending the protein in an individual with multipl...
https://doi.org/10.1016/j.ejmg.2019.103784
European Journal of Medical Genetics; Champagne M, Olivier P et. al.

Oct 12th, 2019 - Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes are known to cause the disease but in 15% of cases of MED, no mutation is found. Fibrobla...

see more →

Clinicaltrials.gov  153 results

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 ...

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

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 ...

A de novo frameshift FGFR1 mutation extending the protein in an individual with multipl...
https://doi.org/10.1016/j.ejmg.2019.103784
European Journal of Medical Genetics; Champagne M, Olivier P et. al.

Oct 12th, 2019 - Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes are known to cause the disease but in 15% of cases of MED, no mutation is found. Fibrobla...

see more →

Patient Education  1 results see all →