Biallelic loss-of-function variants inDOCK3cause muscle hypotonia, ataxia, and intellectual disability-Reference-Cited by-同舟云学术

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Biallelic loss-of-function variants inDOCK3cause muscle hypotonia, ataxia, and intellectual disability

Published:2017-03-30 Issue:4 Volume:92 Page:430-433
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Helbig K.L.¹^ORCID,Mroske C.¹,Moorthy D.²,Sajan S.A.¹,Velinov M.²³

Affiliation:

1. Division of Clinical Genomics; Ambry Genetics; Aliso Viejo California

2. The George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities; Staten Island New York

3. Department of Pediatrics; Icahn School of Medicine at Mount Sinai; New York New York

Funder

New York State Office of People with Developmental Disabilities

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12995/fullpdf

Reference22 articles.

1. Pervasive developmental disorders in preschool children: confirmation of high prevalence;Chakrabarti;Am J Psychiatry,2005

2. Prevalence of intellectual disability: a meta-analysis of population-based studies;Maulik;Res Dev Disabil,2011

3. Genetics of early onset cognitive impairment;Ropers;Annu Rev Genomics Hum Genet,2010

4. Genetic studies in intellectual disability and related disorders;Vissers;Nat Rev Genet,2016

5. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders Study;Nature,2015

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1. DOCK3-Associated Neurodevelopmental Disorder—Clinical Features and Molecular Basis;Genes;2023-10-14

2. DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism;The FASEB Journal;2023-09-24

3. Loss of ZBED6 Protects Against Sepsis‐Induced Muscle Atrophy by Upregulating DOCK3‐Mediated RAC1/PI3K/AKT Signaling Pathway in Pigs;Advanced Science;2023-08-07

4. Neuroprotection and axon regeneration by novel low-molecular-weight compounds through the modification of DOCK3 conformation;Cell Death Discovery;2023-05-15

5. DOCK3 regulates normal skeletal muscle regeneration and glucose metabolism;2023-02-22

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