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Variability in a three‐generation family with pierre robin sequence,acampomelic campomelic dysplasia,and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 |
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| Authors: | Marco Castori Irene Bottillo Silvia Morlino Chiara Barone Piero Cascone Paola Grammatico Luigi Laino |
| Affiliation: | 1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo‐Forlanini Hospital, Rome, Italy;2. Center for Genetic Counseling and Reproductive Teratology, Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy;3. Division of Maxillo‐Facial Surgery, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy |
| Abstract: | |
| Keywords: | acampomelic deletion genotype– phenotype correlations Robin sequence SOX9 variability |