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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features o...

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Pubblicato in:Am J Med Genet C Semin Med Genet
Autori principali: van Ravenswaaij-Arts, Conny, Martin, Donna M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6591023/
https://ncbi.nlm.nih.gov/pubmed/29171162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31592
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