Vanderbilt University Medical Center: Rare Disorder Sheds Light on Dysbindin Function
June 28, 2023
June 28, 2023
NASHVILLE, Tennessee, June 28 (TNSjou) -- Vanderbilt University Medical Center issued the following news:
Hermansky-Pudlak syndrome (HPS) is a set of rare disorders characterized by oculocutaneous albinism (reduced or absent melanin pigment in the skin, hair and eyes), bleeding disorders, pulmonary fibrosis, immunodeficiency and inflammatory bowel disease (IBD).
The disorders result from mutations in 11 different genes that are responsible for the biogenesis and traffic . . .
Hermansky-Pudlak syndrome (HPS) is a set of rare disorders characterized by oculocutaneous albinism (reduced or absent melanin pigment in the skin, hair and eyes), bleeding disorders, pulmonary fibrosis, immunodeficiency and inflammatory bowel disease (IBD).
The disorders result from mutations in 11 different genes that are responsible for the biogenesis and traffic . . .