Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Congenital diaphragmatic hernia (CDH) is a common life-threatening birth defect. Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome...

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Autori principali: Beck, Tyler F., Veenma, Danielle, Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P., van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K., Patel, Pragna I., Lee, Brendan, Tibboel, Dick, de Klein, Annelies, Stockton, David W., Justice, Monica J., Scott, Daryl A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3561915/
https://ncbi.nlm.nih.gov/pubmed/23221805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds507
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