Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

Primary microcephaly (PM) is characterized by a small head since birth and is vastly heterogeneous both genetically and phenotypically. While most cases are monogenic, genetic interactions between Aspm and Wdr62 have recently been described in a mouse model of PM. Here, we used two complementary, ho...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Duerinckx, Sarah, Jacquemin, Valérie, Drunat, Séverine, Vial, Yoann, Passemard, Sandrine, Perazzolo, Camille, Massart, Annick, Soblet, Julie, Racapé, Judith, Desmyter, Laurence, Badoer, Cindy, Papadimitriou, Sofia, Le Borgne, Yann‐Aël, Lefort, Anne, Libert, Frédérick, De Maertelaer, Viviane, Rooman, Marianne, Costagliola, Sabine, Verloes, Alain, Lenaerts, Tom, Pirson, Isabelle, Abramowicz, Marc
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7496698/
https://ncbi.nlm.nih.gov/pubmed/31696992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23948
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