BOC is a Modifier Gene in Holoprosencephaly

Holoprosencephaly (HPE), a common developmental defect of the forebrain and midface, has a complex etiology. Heterozygous, loss-of-function mutations in the Sonic hedgehog (SHH) pathway are associated with HPE. However, mutation carriers display highly variable clinical presentation, leading to an “...

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Pubblicato in:Hum Mutat
Autori principali: Hong, Mingi, Srivastava, Kshitij, Kim, Sungjin, Allen, Benjamin L., Leahy, Daniel J., Hu, Ping, Roessler, Erich, Krauss, Robert S., Muenke, Maximilian
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673120/
https://ncbi.nlm.nih.gov/pubmed/28677295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23286
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