First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

Bibliographic Details
Main Authors: María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta Martínez, Encarna Guillén-Navarro
Format: Article
Language:Spanish
Published: Elsevier 2020-03-01
Series:Anales de Pediatría (English Edition)
Online Access:http://www.sciencedirect.com/science/article/pii/S2341287920300193

Internet

http://www.sciencedirect.com/science/article/pii/S2341287920300193

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