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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Detalles Bibliográficos
Autores principales: Pinchefsky, Elana, Laneuville, Laurence, Srour, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673001/
https://www.ncbi.nlm.nih.gov/pubmed/29147671
http://dx.doi.org/10.1177/2329048X17737651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673001/
https://www.ncbi.nlm.nih.gov/pubmed/29147671
http://dx.doi.org/10.1177/2329048X17737651

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