Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

We describe a case of an infant presenting with intractable diarrhea who subsequently developed dilated cardiomyopathy, for whom a diagnosis was not initially achieved despite extensive clinical testing, including panel-based genetic testing. Research-based whole-genome sequences of the proband and...

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Détails bibliographiques
Publié dans:Cold Spring Harb Mol Case Stud
Auteurs principaux: Bodian, Dale L., Vilboux, Thierry, Hourigan, Suchitra K., Jenevein, Callie L., Mani, Haresh, Kent, Kathleen C., Khromykh, Alina, Solomon, Benjamin D., Hauser, Natalie S.
Format: Artigo
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2017
Sujets:
Research Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701300/
https://ncbi.nlm.nih.gov/pubmed/28701297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002055
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