KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature-Reference-Cited by-同舟云学术

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

Published:2022-12-23 Issue:4 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Choi Yunha¹,Choi Jungmin²,Do Hyosang²,Hwang Soojin³,Seo Go Hun⁴,Choi In Hee⁵,Keum Changwon⁴,Choi Jin‐Ho³,Kang Minji²,Kim Gu‐Hwan²,Yoo Han‐Wook¹,Lee Beom Hee²³^ORCID

Affiliation:

1. Department of Pediatrics, CHA Bundang Medical Center CHA University Seongnam South Korea

2. Medical Genetics Center, Asan Medical Center University of Ulsan College of Medicine Seoul South Korea

3. Department of Pediatrics, Asan Medical Center Children's Hospital University of Ulsan College of Medicine Seoul South Korea

4. 3billion Inc. Seoul South Korea

5. Department of Genetic Counseling University of Ulsan College of Medicine Seoul South Korea

Funder

Asan Institute for Life Sciences, Asan Medical Center

Institute for Information and Communications Technology Promotion

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2127

Reference29 articles.

1. Brain-derived neurotrophic factor amplifies neurotransmitter responses and promotes synaptic communication in the enteric nervous system

2. Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development

3. Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

4. Growth hormone therapy for children with KBG syndrome: A case report and review of literature

5. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation ofANKRD11

Cited by 5 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. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12

2. Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome;Heliyon;2024-03

3. Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype;Epilepsy & Behavior Reports;2024

4. Ocular manifestations in a cohort of 43 patients with KBG syndrome;American Journal of Medical Genetics Part A;2023-11-14

5. Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report;Medicine;2023-10-06