Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Carmen C. Leitch(Johns Hopkins University), Norann A. Zaghloul(Johns Hopkins Medicine), Erica E. Davis(Johns Hopkins Medicine), Corinne Stoetzel(Université de Strasbourg), Anna Dı́az-Font(University College London), Suzanne Rix(University College London), Majid Alfadhel(King Fahad Hospital Jeddah), Richard A. Lewis(Baylor College of Medicine), Wafaa Eyaid(King Fahad Hospital Jeddah), Eyal Banin(Hebrew University of Jerusalem), Hélène Dollfus(Inserm), Philip L. Beales(University College London), José L. Badano(Johns Hopkins Medicine), Nicholas Katsanis(Johns Hopkins Medicine)
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