ALLMedicine™ Multiple Epiphyseal Dysplasia Center
Research & Reviews 72 results
https://www.ncbi.nlm.nih.gov/books/n/gene/edm/
Jan 19th, 2023 - SLC26A2-related multiple epiphyseal dysplasia (SLC26A2-MED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding a...
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...
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...
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 ...
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 ...
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.
