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

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 the breakpoints of a complex chromosomal rearrangem...

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Pubblicato in:Hum Mutat
Autori principali: Nazaryan-Petersen, Lusine, Oliveira, Inês R., Mehrjouy, Mana M., Mendez, Juan M.M., Bak, Mads, Bugge, Merete, Kalscheuer, Vera M., Bache, Iben, Hancks, Dustin C., Tommerup, Niels
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688968/
https://ncbi.nlm.nih.gov/pubmed/31033088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23775
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