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Intragenic duplication—A novel causative mechanism for SATB2‐associated syndrome |
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| Authors: | Agne Liedén Malin Kvarnung Daniel Nilssson Ellika Sahlin Elisabeth Syk Lundberg |
| Affiliation: | 1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden;3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden |
| Abstract: | |
| Keywords: | SATB2 2q33.1 cleft palate teeth abnormality intellectual disability speech impairment array comparative genomic hybridization mate pair sequencing |