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Contact & Profiles
A5090672216
Research Areas
- Ubiquitin and proteasome pathways
- Peptidase Inhibition and Analysis
- Diabetes Management and Research
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Glycosylation and Glycoproteins Research
University of Manchester
2020
Abstract 3M syndrome is a rare autosomal recessive genetic disorder characterized by severe growth retardation, dysmorphic facial features, skeletal dysplasia, and normal intelligence. Variants in CUL7 , OBSL1 CCDC8 genes have been reported to be responsible for this syndrome. In study, the clinical molecular findings of four cases from three families are presented. All had relative macrocephaly, typical features. Their neurological developments were normal. Sequencing revealed two different...
10.1002/ajmg.a.61989
article
EN
American Journal of Medical Genetics Part A
2020-11-30
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
10.1530/endoabs.58.p051
article
EN
Endocrine Abstracts
2018-10-18
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