TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array‐compa...
Main Authors: | , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
John Wiley and Sons Inc.
2015
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244/ |