Report of a new mutation in Colombia in a patient with Kabuki Syndrome

Report of a new mutation in Colombia in a patient with Kabuki Syndrome

Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric c...

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Bibliographic Details
Main Authors: Hernández Woodbine, María José, del Castillo Rix, Daniel Sebastián, Baquero Mejía, Ingrid Carolina
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2020-01-01
Series:Iatreia
Subjects:
congenital abnormalities
cholangitis sclerosing
colombia
genetic phenomena
Online Access:http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/334038/20794423

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