ALLMedicine™ Multiple Epiphyseal Dysplasia Center
Research & Reviews 69 results
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...
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 ...
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 ...
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 ...
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Calcified Tissue International; Liang H, Hou Y et. al.
Oct 29th, 2021 - Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia type 1 (MED1) are two rare skeletal disorders caused by cartilage oligomeric matrix protein (COMP) variants. This study aims to analyze the genotype and phenotype of patients with COMP...
Clinicaltrials.gov 1 results
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...
Patient Education 1 results
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.
