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Titel:

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Dokumenttyp:
Article; Journal Article
Autor(en):
AlAbdi, Lama; Desbois, Muriel; Rusnac, Domniţa Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Billie Au, Ping Yee; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A; Christensen, Elyse L; Opperman, Karla J; Giles, Andrew C; Helaby, Rana; Kania, Artur; Zheng, Ning; Grill, Brock; Alkuraya, Fowzan S
Abstract:
The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnormal axon development. Here, we describe a cohort of eight patients with a neurodevelopmental disorder characterized by a range of deficits including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy and autistic feat...     »
Zeitschriftentitel:
Brain
Jahr:
2023
Band / Volume:
146
Heft / Issue:
4
Seitenangaben Beitrag:
1373-1387
Volltext / DOI:
doi:10.1093/brain/awac364
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36200388
Print-ISSN:
0006-8950
TUM Einrichtung:
Institut für Humangenetik
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