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Article

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

1 Jan 2007

Abstract excerpt

BACKGROUND: Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features. METHODS: 14 Italian patients carrying partial de...

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PMID: 17209130
DOI: 10.1136/jmg.2006.043059

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