Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Abstract
Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in...
Paper Details
Title
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Published Date
Apr 27, 2015
Journal
Volume
47
Issue
6
Pages
661 - 667
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