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Distal 22q11.2 Microduplication: Case Report and Review of the Literature

Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chro...

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Bibliografiske detaljer
Udgivet i:Child Neurol Open
Main Authors: Pinchefsky, Elana, Laneuville, Laurence, Srour, Myriam
Format: Artigo
Sprog:Inglês
Udgivet: SAGE Publications 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673001/
https://ncbi.nlm.nih.gov/pubmed/29147671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X17737651
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