Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Karine Poirier, David A Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet-Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie-Laure Moutard, Jean-Pierre Fryns, Hilde van Esch, Robert J Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

Hum Mutat. 2007 Nov;28(11):1055-64.