About 163 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  64 results

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-co...
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

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

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...

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Molecular Genetics & Genomic Medicine; Gatticchi L, Vešelényiová D et. al.

Mar 17th, 2021 - The rapid spread of genome-wide next-generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well-characterized molecular diagnosis. He...

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Patient Education  1 results

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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