Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogene...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Elsevier,
2017-01-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |