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Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogeneticiens de langue Francaise'.
Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P. Béri-Deixheimer M, et al. Eur J Hum Genet. 2007 Apr;15(4):446-52. doi: 10.1038/sj.ejhg.5201784. Epub 2007 Feb 7. Eur J Hum Genet. 2007. PMID: 17290276
Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA …
Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct …