Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report

• Päätekijät: Fulesh Kunwar (Tekijä), Shikha Tewari (Tekijä), Sonal R. Bakshi (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Elsevier, 2017-01-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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...