Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses

BACKGROUND: CHD7 pathogenic variants are identified in more than 90% of infants and children with CHARGE syndrome. Approximately 10% of cases have no known genetic cause identified. METHODS: We report a male child with clinical features of CHARGE syndrome and non-diagnostic genetic testing that incl...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Granadillo, Jorge L, Wegner, Daniel J, Paul, Alexander J, Willing, Marcia, Sisco, Kathleen, Tedder, Matthew L, Sadikovic, Bekim, Wambach, Jennifer A, Baldridge, Dustin, Cole, F Sessions
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8218330/
https://ncbi.nlm.nih.gov/pubmed/33184947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61962
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