First Spanish case of syndromic intellectual disability...

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

Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta Martínez, María Juliana, Guillén-Navarro, Encarna
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Volume:
92
Journal:
Anales de Pediatría (English Edition)
DOI:
10.1016/j.anpede.2019.03.007
Date:
March, 2020
File:
PDF, 367 KB
2020
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