Mizuguchi T; Collod-Beroud G; Akiyama T; Abifadel M; Harada N; Morisaki T; Allard D; Varret M; Claustres M; Morisaki H; Ihara M; Kinoshita A; Yoshiura K; Junien C ...
Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...
Asianet Newsable on MSN13d
Trying to Conceive? Can your baby be at risk of inheriting genetic disorder? READ THISMany couples consider lifestyle, nutrition, and timing when trying to conceive. Nevertheless, an important factor is ...
Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ...
Marfan syndrome (MS) is an autosomal dominant disease characterised ... MS is an inherited disorder of connective tissue with musculoskeletal, cardiac and ocular abnormalities. Mutation of the FBN1 ...
Live Science on MSN4d
POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of LuxembourgPOLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
People with the rare Li-Fraumeni syndrome (LFS) have a high risk of developing cancer. Almost all those affected will develop ...
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