A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. He...

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Bibliographic Details
Main Authors: Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5973622?pdf=render

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http://europepmc.org/articles/PMC5973622?pdf=render

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