NF1 microdeletion syndrome: case report of two new patients
Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2019-11-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |