Ontology highlight
ABSTRACT:
SUBMITTER: Vazquez-Martinez ER
PROVIDER: S-EPMC4287796 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Vázquez-Martínez Edgar Ricardo ER Varela-Fascinetto Gustavo G García-Delgado Constanza C Rodríguez-Espino Benjamín Antonio BA Sánchez-Boiso Adriana A Valencia-Mayoral Pedro P Heller-Rosseau Solange S Pelcastre-Luna Erika Lisselly EL Zenteno Juan C JC Cerbón Marco M Morán-Barroso Verónica Fabiola VF
Meta gene 20131208
Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified in 20-89% of the patients with Alagille syndrome, this gene encodes for a ligand that activates the Notch signaling pathway. In the present study we analyzed 9 Mexican patients with Alagille syndrome who presented the clinical criteria for the classic ...[more]