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

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah–Waardenburg syndrome...

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Detaylı Bibliyografya
Asıl Yazarlar: de Pontual, Loïc, Zaghloul, Norann A., Thomas, Sophie, Davis, Erica E., Mcgaughey, David M., Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L., Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L., McCallion, Andrew S., Katsanis, Nicholas, Amiel, Jeanne
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2009
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2728996/
https://ncbi.nlm.nih.gov/pubmed/19666486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0901219106
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