ALLMedicine™ Multiple Epiphyseal Dysplasia Center
Research & Reviews 67 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...
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-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...
http://emedicine.medscape.com/article/1265065-overview
Apr 7th, 2021 - Practice Essentials Os odontoideum is an anatomic anomaly of the upper cervical spine that may be defined in radiologic terms as an oval or round ossicle with smooth circumferential cortical margins representing a hypoplastic dens (odontoid proces...
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.
