About
Contact & Profiles
A5087521064
Research Areas
- Connective tissue disorders research
- Hip disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Trauma Management and Diagnosis
- Aortic Disease and Treatment Approaches
Sunnaas sykehus
2018-2019
Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type caused mutations in the gene that encodes connective tissue protein, filamin B (FLNB). Loeys-Dietz (LDS) an arterial aneurysms, dissections tortuosity, skeletal, including craniofacial, manifestations. Mutations five genes involved transforming growth factor beta (TGF-β) signaling pathway cause types of LDS. Stickler...
10.1186/s12881-018-0671-0
article
EN
cc-by
BMC Medical Genetics
2018-08-31
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