Syndromic diarrhea/Tricho-hepato-enteric syndrome
<p>Abstract</p> <p>Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in <it>SKIV2L</it> or in <it>TTC37</it>, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmissi...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2013-01-01
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| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | http://www.ojrd.com/content/8/1/5 |
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