Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia-Reference-Cited by-同舟云学术

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

Published:2019-11 Issue:11 Volume:21 Page:2532-2542
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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,Winkelmann Juliane

Funder

National Institutes of Health

Grantová Agentura České Republiky

Deutsche Forschungsgemeinschaft

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0523-0.pdf

Reference31 articles.

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2. A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene;American Journal of Medical Genetics Part A;2024-04-24

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4. ZNF142mutation causes sex-dependent neurologic disorder;Journal of Medical Genetics;2024-01-31

5. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01