Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an unusual degree of structural complexity. Here, we present a duplication of 8p23.1–8p23.2 ascertained in a child with speech delay and a diagnosis of ICD-10 autism. The same...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K, Thomas, N Simon, Bunyan, David J, Jackson, Ann, Barber, John C K
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2009
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985953/
https://ncbi.nlm.nih.gov/pubmed/18716609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.133
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