Article
Outcome associated with EPCAM founder mutation c.499dup in Qatar.
European journal of medical genetics - 1 Oct 2020
Hassan Kamal, Sher Gulab, Hamid Eman, Hazima Khalid Abou, Abdelrahman Hatim, Al Mudahka Fatma, Al-Masri Wesam, Sankar Jisha, Daryaee Mahlah, Shawish Rana, Khan Muzammil Ahmad, Nawaz Zafar
Abstract excerpt
Tufting enteropathy (TE) is a rare autosomal recessive congenital enteropathy that usually requires long-term parenteral nutrition (PN). In the Arabic Peninsula, four distinct EPCAM mutations have been identified to cause TE. As consanguineous marriages are socially favored, pre-marital and pre-conception testing has become a critical disease prevention strategy. This study aimed to identify the pathogenic EPCAM...
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