2 results found

Saleck Mahfoudh Ebebecar, Malak Salame, Mohamed Hameyin, Tijani Hamed, Fatimetou Vetten, Tettou Soumbara, Mohamed lemine Hmeity, Abdallahi Sidi Mohmed, Houria Abdelghaffar, Ahmed Houmeida

Background and aim: Celiac disease (CD) is an autoimmune disorder primarily caused by an abnormal immune response to dietary gluten in human leucocytes class II antigens carriers This preliminary stud...

BMC Gastroenterology 2026-04-23 rs-9058697
HLA Celiac disease Gluten Mauritania

William Foulkes, Kenzie Melvill, Leora Witkowski, Céline Domecq, Nancy Hamel, Justin Mayers, Sofia Maia, Manuel Teixeira, Inês Francisco, Cristina Albuquerque, Olivia Tan, Kevin McDonnell, Alexandra Capasso, George Chong, Victoria Marcus, Carla Pinto

In certain populations, founder pathogenic variants are a common cause of Lynch syndrome. Here, we report the identification of a novel founder variant, NM_000179.3 (MSH6):c.2061T > G (p.Cys687Trp). O...

European Journal of Human Genetics 2026-04-21 rs-9172566
Founder variant Lynch syndrome variant of uncertain significance immunohistochemistry haplotype endometrial cancer
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