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8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp

BACKGROUND: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. RESULTS: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, i...

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Bibliografiska uppgifter
I publikationen:Mol Cytogenet
Huvudupphovsmän: Weber, Axel, Köhler, Angelika, Hahn, Andreas, Müller, Ulrich
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4268894/
https://ncbi.nlm.nih.gov/pubmed/25520754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0094-3
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