Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant-Reference-Cited by-同舟云学术

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Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Published:2021-12-14 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Schwarz Martin¹^ORCID,Ryba Lukáš¹,Křepelová Anna¹,Moslerová Veronika¹,Zelinová Michaela¹,Turnovec Marek¹,Martinková Júlia¹,Kratochvílová Lenka²,Drahanský Martin³,Macek Milan¹,Havlovicová Markéta¹

Affiliation:

1. Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University in Prague and Motol University Hospital Prague Czech Republic

2. Department of Stomatology Motol University Hospital Prague Czech Republic

3. Department of Intelligent Systems, Faculty of Information Technology Brno University of Technology Brno Czech Republic

Funder

Ministerstvo Školství, Mládeže a Tělovýchovy

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62616

Reference11 articles.

1. Small-Conductance Ca2+-Activated K+ Channels: Form and Function

2. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

3. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

4. Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature review

5. Hydrophobic Interactions as Key Determinants to the KCa3.1 Channel Closed Configuration

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. Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report;Journal of Clinical Pediatric Dentistry;2024

2. Ca2+-Sensitive Potassium Channels;Molecules;2023-01-16

3. Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels;Acta Pharmacologica Sinica;2022-06-17

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