An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference9 articles.
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2. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder;Graham JM Jr;Am J Med Genet A,2016
3. Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome;Veale EL;Mol Pharmacol,2014
4. Zadeh N, Graham JM, Jr.. KCNK9 Imprinting Syndrome. GeneReviews®, Seattle, Washington, WA; 2017. https://europepmc.org/article/nbk/nbk425128.
5. Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome;Šedivá M;Eur J Med Genet,2020
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1. The scale of zebrafish pectoral fin buds is determined by intercellular K+ levels and consequent Ca2+-mediated signaling via retinoic acid regulation of Rcan2 and Kcnk5b;PLOS Biology;2024-03-25
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