Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

Autor: Juan M M Mendez, Niels Tommerup, Dustin C. Hancks, Iben Bache, Mads Bak, Vera M. Kalscheuer, Lusine Nazaryan-Petersen, Mana M. Mehrjouy, Inés Oliveira, Merete Bugge

Publikováno v: Human Mutation
Hum Mutat
Nazaryan-Petersen, L, Oliveira, I R, Mehrjouy, M M, Mendez, J M M, Bak, M, Bugge, M, Kalscheuer, V M, Bache, I, Hancks, D C & Tommerup, N 2019, ' Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome ', Human Mutation, vol. 40, no. 8, pp. 1057-1062 . https://doi.org/10.1002/humu.23775

Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. While a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b520ffa196cc52874d74a00e2c17133
https://doi.org/10.1002/humu.23775