Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing <i>ZNF462</i>-Reference-Cited by-同舟云学术

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

Published:2022-12-03 Issue:3 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Brady Lauren¹²,Ballantyne Mark³,Duck John³,Fisker Thomas³,Kleefman Ryan³,Li Chumei¹⁴^ORCID,Nfonsam Landry³⁵,Schultz Lee‐Anne¹⁴,Tarnopolsky Mark¹²^ORCID,McCready Elizabeth³⁵^ORCID

Affiliation:

1. Hamilton Health Sciences Centre Hamilton Ontario Canada

2. Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics McMaster University Hamilton Ontario Canada

3. Hamilton Regional Laboratory Medicine Program Hamilton Health Sciences Centre Hamilton Ontario Canada

4. Division of Genetics, Department of Paediatrics McMaster University Hamilton Ontario Canada

5. Department of Pathology and Molecular Medicine McMaster University Hamilton Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2116

Reference29 articles.

1. Evaluation of the child with global developmental delay and intellectual disability

2. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

3. A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1-9q33.1 deletion in a girl with a cleft lip and palate

4. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

5. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review;European Journal of Medical Genetics;2024-10

2. Genome-wide association study of therapeutic response to statin drugs in cardiovascular disease;Scientific Reports;2024-08-03

3. Diabetes in a Weiss-Kruszka syndrome boy and a de novo deletion in 9q31.2;Endocrine;2023-09-06