Gene

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Mirta Basha, Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Stephanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève Francois, Bénédicte Bayet, Miikka Vikkula

Journal of Medical Genetics Jul 2018, 55 (7) 449-458; DOI: 10.1136/jmedgenet-2017-105110
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
Yixin Chen, Zhenlei Liu, Jia Chen, Yuzhi Zuo, Sen Liu, Weisheng Chen, Gang Liu, Guixing Qiu, Philip F Giampietro, Nan Wu, Zhihong Wu

Journal of Medical Genetics Jul 2016, 53 (7) 431-437; DOI: 10.1136/jmedgenet-2015-103554

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