Referenced in: none

Automatically associated channels: Kv10.1 , Kv6.3

Title: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Authors: Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M Campeau, Marco Tartaglia, Kerstin Kutsche

Journal, date & volume: Nat. Genet., 2015 Jun , 47, 661-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25915598

Abstract