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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Pubmed ID: 
25915598
Year: 
2015
Month: 
APR
Citation: 
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. NATURE GENETICS (2015) PubMed