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A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome

Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofac...

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Bibliografski detalji
Izdano u:J Pediatr Genet
Glavni autori: Atwal, Paldeep S., Macmurdo, C.
Format: Artigo
Jezik:Inglês
Izdano: Georg Thieme Verlag KG 2015
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906526/
https://ncbi.nlm.nih.gov/pubmed/27617133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1565267
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