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Titel:

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Dokumenttyp:
Journal Article
Autor(en):
Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Win...     »
Abstract:
PURPOSE: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the clinical features of a novel cohort of affected individuals with variants in ZNF142, a C2H2 domain-containing transcription factor. METHODS: Four independent research centers used exome sequencing to elucidate the genetic basis of neurodevelopmental phenotypes in four unrelated families. Following bioinformatic filtering, query of control data sets, and secondary var...     »
Zeitschriftentitel:
Genet Med
Jahr:
2019
Band / Volume:
21
Heft / Issue:
11
Seitenangaben Beitrag:
2532-2542
Volltext / DOI:
doi:10.1038/s41436-019-0523-0
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31036918
Print-ISSN:
1098-3600
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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