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About 185 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  72 results

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple ep...
https://doi.org/10.1016/j.bone.2022.116508
Bone Luo ZJ, Li H et. al.

Jul 31st, 2022 - Diagnosis of rare skeletal diseases is based primarily on clinical phenotype and radiographic analysis. Genetic etiology of these heterogeneous diseases remains largely unknown. Here, we report the identification of two genomic mutations using exo...

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-co...
https://doi.org/10.1016/j.ejmg.2022.104426
European Journal of Medical Genetics; Orlov IE, Laidus TA et. al.

Jan 14th, 2022 - Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurren...

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

Dec 13th, 2021 - 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
http://emedicine.medscape.com/article/1259038-overview

Dec 13th, 2021 - 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

Dec 13th, 2021 - 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  1 results

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
https://clinicaltrials.gov/ct2/show/NCT01707433

Aug 4th, 2015 - BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfata...

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Patient Education  1 results

Multiple Epiphyseal Dysplasia
https://www.hopkinsmedicine.org/health/conditions-and-diseases/multiple-epiphyseal-dysplasia

Multiple epiphyseal dysplasia is a form of skeletal dysplasia that causes premature deterioration of cartilage, which leads to early arthritis.

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