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

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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Bibliographic Details
Main Authors: Fulesh Kunwar, Shikha Tewari, Sonal R. Bakshi
Format: Article
Language:English
Published: Elsevier 2017-01-01
Series:Journal of Oral Biology and Craniofacial Research
Subjects:
Craniosynostosis
Apert syndrome
FGFR2
Phenomizer
Genetic diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S221242681630063X

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http://www.sciencedirect.com/science/article/pii/S221242681630063X

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