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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Bibliografski detalji
Glavni autori: Fulesh Kunwar (Autor), Shikha Tewari (Autor), Sonal R. Bakshi (Autor)
Format: Knjiga
Izdano: Elsevier, 2017-01-01T00:00:00Z.
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