Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lauria Batamba Bouya"'
Publikováno v:
Global Medical Genetics, Vol 10, Iss 01, Pp 001-005 (2023)
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk fo
Externí odkaz:
https://doaj.org/article/ff247c6dc8c14d4596d3d1046332de02
Autor:
J. F. Peko, Irène Patricia Lucienne Ondima, Aimé Lumaka Zola, Lauria Batamba Bouya, Henriette Poaty, Deby Gassaye, Arnaud Mongo-Onkouo
Publikováno v:
Gene Reports. 23:101141
Background Juvenile polyposis syndrome (JPS) is a rare genetic disorder due to germline mutations in BMPR1A or in SMAD4 that are both tumor suppressor genes. The main clinical manifestation is the presence of multiple hamartomatous polyps preferentia