Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.
Srour M, et al. Among authors: laberge am.
Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.
Am J Hum Genet. 2015.
PMID: 26477546
Free PMC article.