Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature

Idiopathic intestinal varicosis is a developmental disorder defined by dilated and convoluted submucosal veins in the colon or small bowel. A limited number of families with idiopathic intestinal varices has been reported, but the genetic cause has not yet been identified. We performed whole‐exome a...

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Pubblicato in:Hum Mutat
Autori principali: Kerkhofs, Chantal, Stevens, Servi J. C., Faust, Saul N., Rae, William, Williams, Anthony P., Wurm, Peter, Østern, Rune, Fockens, Paul, Würfel, Christiane, Laass, Martin, Kokke, Freddy, Stegmann, Alexander P. A., Brunner, Han G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6972609/
https://ncbi.nlm.nih.gov/pubmed/31498527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23909
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