ALLMedicine™ Multiple Epiphyseal Dysplasia Center
Research & Reviews 58 results
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...
European Journal of Human Genetics : EJHG; Nash BM, Watson CJG et. al.
Feb 27th, 2021 - The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozyg...
American Journal of Medical Genetics. Part A; Reinsch B, Grand K et. al.
Nov 29th, 2020 - RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old m...
Journal of Pediatric Orthopedics; Andrzejewski A, Péjin Z et. al.
Nov 10th, 2020 - Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current ...
Nature Communications; Li C, Wang N et. al.
Jul 21st, 2020 - Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we repor...