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About 170 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  67 results

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
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-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 ...

Os Odontoideum
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...

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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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