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Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders |
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| Authors: | Addie Nesbitt Elizabeth J. Bhoj Kristin McDonald Gibson Zhenming Yu Elizabeth Denenberg Mahdi Sarmady Tanya Tischler Kajia Cao Holly Dubbs Elaine H. Zackai Avni Santani |
| Affiliation: | 1. Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;2. Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;3. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;4. Department of Pathology and Laboratory Medicine, Molecular Genetics Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| Abstract: | |
| Keywords: | SRY‐BOX5 SOX5 SRY‐related HMG‐box gene 5 SOX gene family SOX5‐associated intellectual disability syndrome intellectual disability 12p12 microdeletion syndrome 12p12 whole exome sequencing |