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Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review |
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| Authors: | Gerarda Cappuccio Rita Genesio Valentina Ronga Alberto Casertano Antonella Izzo Maria Pia Riccio Carmela Bravaccio Maria Carolina Salerno Lucio Nitsch Generoso Andria Daniela Melis |
| Affiliation: | 1. Department of Translational Medical Sciences, Federico II University, Naples, Italy;2. Department of Cellular and Molecular Biology and Pathology, Federico II University, Naples, Italy;3. Department of Child Neuropsychiatry, Second University of Naples, Naples, Italy |
| Abstract: | |
| Keywords: | 8q deletion mental delay Langer– Giedion syndrome hyperreninemia CYP11B2 deficiency Cornelia de Lange syndrome |