Syndromic patent ductus arteriosus: Evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder

Patent ductus arteriosus (PDA) is a common congenital heart disease that results when the ductus arteriosus, a muscular artery, fails to remodel and close after birth. A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcri...

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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: Mani, Arya, Radhakrishnan, Jayaram, Farhi, Anita, Carew, Khary S., Warnes, Carole A., Nelson-Williams, Carol, Day, Ronald W., Pober, Barbara, State, Matthew W., Lifton, Richard P.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2005
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC549488/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15684060/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0409852102
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