About 148 results

ALLMedicine™ Multiple Epiphyseal Dysplasia Center

Research & Reviews  58 results

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...

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and ret...
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...

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
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...

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyse...
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 ...

Mutations in COMP cause familial carpal tunnel syndrome.
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...

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