Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype-Reference-Cited by-同舟云学术

Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype

Published:2023-05-01 Issue:3 Volume:32 Page:116-123
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Wafik Mohamed¹,Kuoppamaa Heidi²,Hirani Priyal²,Hignett John²,Lillis Suzanne²,Lascelles Karine³,Sardesai Shweta⁴,Gomez Kumudini⁵,Holder-Espinasse Muriel¹

Affiliation:

1. Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust

2. Viapath LLP, Guy’s Hospital, 5th Floor Tower Wing

3. Evelina London Children’s Hospital

4. Community Paediatrics Medical Service, Oxleas NHS Foundation Trust

5. Department of Paediatrics, University Hospital Lewisham, London, UK

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.;Akahira-Azuma;Hum Genome Var,2018

2. Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.;Chiu;Clin Genet,2018

3. Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.;Colavito;J Hum Genet,2018

4. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.;Dominguez;Hum Genet,2021

5. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources.;Firth;Am J Hum Genet,2009

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1. Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family;Clinical Dysmorphology;2024-05-16

2. Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion;Molecular Genetics & Genomic Medicine;2024-03