Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation-Reference-Cited by-同舟云学术

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Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

Published:2019-12-10 Issue:3 Volume:182 Page:521-526
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yamamoto‐Shimojima Keiko¹²³,Imaizumi Taichi²⁴,Akagawa Hiroyuki³,Kanno Hitoshi²⁵,Yamamoto Toshiyuki²³⁴^ORCID

Affiliation:

1. Japan Society for the Promotion of Science (RPD) Tokyo Japan

2. Institute of Medical GeneticsTokyo Women's Medical University Tokyo Japan

3. Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan

4. Department of PediatricsSt. Marianna University School of Medicine Kawasaki Japan

5. Department of Transfusion Medicine and Cell ProcessingTokyo Women's Medical University Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61432

Reference24 articles.

1. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

2. The Primrose syndrome with progressive neurological involvement and cerebral calcification

3. Additional features of unique Primrose syndrome phenotype

4. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

5. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

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1. Dysregulation of long non-coding RNA gene expression pathways in monocytes of type 2 diabetes patients with cardiovascular disease;Cardiovascular Diabetology;2024-06-07

2. Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature;Molecular Genetics & Genomic Medicine;2023-12-12

3. Management of Cartilage Conduction Hearing Aids in Pediatric Patients;Audiology Research;2023-11-06

4. Mutations inZBTB20in individuals with persistent stuttering;2022-11-07

5. Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders;Cells;2021-09-04

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