McCune-Albright Syndrome is a rare genetic disorder affecting the skin, bones, and endocrine glands. It is clinically defined by a triad of fibrous dysplasia of bone (FD), skin pigmentation...
McCune-Albright Syndrome is a rare genetic disorder affecting the skin, bones, and endocrine glands. It is clinically defined by a triad of fibrous dysplasia...
Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp,...
Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from...
Goodpasture's Syndrome, more accurately referred to today as anti-GBM disease, is a rare autoimmune small vessel vasculitis. In this condition, the immune system produces...
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a rare genetic disorder that causes neurodevelopmental...