22q and two: 22q11.2 deletion syndrome and coexisting conditions

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000–4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due...

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Udgivet i:Am J Med Genet A
Main Authors: Cohen, Jennifer L., Crowley, Terrence B., McGinn, Daniel E., McDougall, Carey, Unolt, Marta, Lambert, Michele P., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467269/
https://ncbi.nlm.nih.gov/pubmed/30244528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40494
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