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FBLN5A gene on chromosome 14q32.1 that encodes a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains, which promotes adhesion of endothelial cells by interaction of integrins and the RGD motif. The FBLN5 protein produced is expressed in intimal vascular smooth muscle cells and endothelial cells during vascular development, and in remodeling during atherosclerosis and after balloon-catheter-induced injury.
FBLN5 mutations cause cutis laxa type I and age-related macular degeneration type 3.
Patient discussion about dance
Q. arthritis and dancing
Q. Will dancing help to loose my body weight? Hi guys, I am planning to reduce my body weight. Will dancing help to loose my body weight?
dancing is a great aerobic exercise. it works on so many groups of muscles and on the cardiopulmonary system. and it has another great virtue- it is a sport you enjoy and it's easy to get in a routine of exercises when you go dancing in a group.
Q. My son displays behavior such as hooting, screeching, flapping arms, "chicken" dancing, rocking... Hi members, please help me to choose the right way. My son displays behavior such as hooting, screeching, flapping arms, "chicken" dancing, rocking, bouncing, jumping, limited repetitive play skills, low self esteem, difficulty commencing and occasionally sustaining adult directed tasks, difficulty maintaining relationships with adults and peers, he becomes easily frustrated and will become physically and verbally aggressive, can overreact to being touched, easily distracted by noise, short attention span, likes routine and finds it difficult to change task, difficulty listening, and difficulty following verbal instructions. He is like this at home and school. I have been told by the local NHS group that he is not autistic because of his parent’s separation and divorce in his early life and he does not present these behaviors as a "pervasive feature". Instead they suggest he needs a hearing check and he has "neuro developmental immaturities". What is your opinion? Should I get a second opinion?