Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Translational psychiatry - 1 Oct 2022
Dingemans Alexander J M, Truijen Kim M G, van de Ven Sam, Bernier Raphael, Bongers Ernie M H F, Bouman Arjan, de Graaff-Herder Laura, Eichler Evan E, Gerkes Erica H, De Geus Christa M, van Hagen Johanna M, Jansen Philip R, Kerkhof Jennifer, Kievit Anneke J A, Kleefstra Tjitske, Maas Saskia M, de Man Stella A, McConkey Haley, Patterson Wesley G, Dobson Amy T, Prijoles Eloise J, Sadikovic Bekim, Relator Raissa, Stevenson Roger E, Stumpel Connie T R M, Heijligers Malou, Stuurman Kyra E, Löhner Katharina, Zeidler Shimriet, Lee Jennifer A, Lindy Amanda, Zou Fanggeng, Tedder Matthew L, Vissers Lisenka E L M, de Vries Bert B A
Abstract excerpt
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM), the syndrome caused by pathogenic variants in CHD8, consists of a broad range of phenotypic abnormalities. We collected and reviewed 106 individuals with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.