Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease-Reference-Cited by-同舟云学术

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Published:2009-07-31 Issue:33 Volume:106 Page:13921-13926
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

de Pontual L.,Zaghloul N. A.,Thomas S.,Davis E. E.,Mcgaughey D. M.,Dollfus H.,Baumann C.,Bessling S. L.,Babarit C.,Pelet A.,Gascue C.,Beales P.,Munnich A.,Lyonnet S.,Etchevers H.,Attie-Bitach T.,Badano J. L.,McCallion A. S.,Katsanis N.,Amiel J.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference31 articles.

1. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

2. Segregation at three loci explains familial and population risk in Hirschsprung disease

3. Genomic Variation in Multigenic Traits: Hirschsprung Disease

4. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

5. Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer

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