Article
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Clinical genetics - 1 Sept 2017
Peña-Quintana L, Scherer G, Curbelo-Estévez M L, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell G A, Mönch E, Trump D, Vianey-Saban C, Trimble E R, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A
Abstract excerpt
BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.