Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic c...

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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: Timberlake, Andrew T., Jin, Sheng Chih, Nelson-Williams, Carol, Wu, Robin, Furey, Charuta G., Islam, Barira, Haider, Shozeb, Loring, Erin, Galm, Amy, Steinbacher, Derek M., Larysz, Dawid, Staffenberg, David A., Flores, Roberto L., Rodriguez, Eduardo D., Boggon, Titus J., Persing, John A., Lifton, Richard P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2019
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660739/
https://ncbi.nlm.nih.gov/pubmed/31292255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1902041116
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