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A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

The Xp11.22–p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small du...

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Bibliografiset tiedot
Julkaisussa:J Pediatr Genet
Päätekijät: Arican, Pinar, Cavusoglu, Dilek, Gencpinar, Pinar, Ozyilmaz, Berk, Ozdemir, Taha Resid, Dundar, Nihal Olgac
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Georg Thieme Verlag KG 2018
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5916805/
https://ncbi.nlm.nih.gov/pubmed/29707408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612598
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