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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Proc Natl Acad Sci U S A
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 2019
Aiheet:
Biological Sciences
Linkit: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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