RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions. Therefore, the reported frequency of pathoge...

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Pubblicato in:Eur J Hum Genet
Autori principali: Widowati, Titis, Melhem, Shamiram, Patria, Suryono Y, de Graaf, Bianca M, Sinke, Richard J, Viel, Martijn, Dijkhuis, Jos, Sadewa, Ahmad H, Purwohardjono, Rochadi, Soenarto, Yati, Hofstra, Robert MW, Sribudiani, Yunia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867453/
https://ncbi.nlm.nih.gov/pubmed/26395553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.214
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