Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC; Zaghloul NA; Davis EE; Stoetzel C; Diaz-Font A; Rix S; Alfadhel M; Lewis RA; Eyaid W; Banin E; Dollfus H; Beales PL; Badano JL; Katsanis N; Nature Genetics, 2008, vol. 40, issue 4, p 443, ISSN 15461718. ISBN 15461718.

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