"We love her little smile." A baby who was born with a rare form of dwarfism is now home after spending the first six months of her life in the hospital. Paisley Courson was born with a severe ...

Please provide your email address to receive an email when new articles are posted on . The FDA granted orphan drug designation and rare pediatric disease designation for a treatment for autosomal ...

A McGill-led team of researchers have made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect ...

Researchers of the "Cell Biology and Physiology-LABRET" group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and ...

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system. Patients with these conditions have facial abnormalities, such as cleft ...

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development. The new online resource gives detailed information about more than 80 of ...

PARIS, FRANCE (November xx, 2021) – Genethon, a unique non-profit gene therapy R&D organization founded by the French Muscular Dystrophy Association (AFM-Telethon), announced today publication in the ...

Skeletal muscle channelopathies and myotonic disorders constitute a heterogeneous group of neuromuscular conditions caused by mutations that impair the function of ion channels, including sodium and ...

LOUISVILLE, Ky. (WAVE) - Many inspiring stories are shared during the Olympics about people overcoming adversity. A little girl from LaGrange is doing the same, and her family is choosing to educate ...

UCI scientists have discovered a new treatment for the most common skeletal muscle disorder for people 50 and older, officials said. A new study shows that lithium chloride, normally used to treat ...

Scientists at the University of Cincinnati and colleagues report that a regulatory protein found in skeletal muscle fiber may play an important role in the body’s fight or flight response when ...