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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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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | 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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