Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.A391G
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FGFR3

NM_000142.5:p.A391G

Associated Papers

An update of ophthalmic management in craniosynostosis.

Ganesh A et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019

Crouzon syndrome with acanthosis nigricans: a case-based update.

Di Rocco F et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2011

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

Arnaud-López L et al.

Clinical Genetics, 2007

Roles of FGF receptors in mammalian development and congenital diseases.

Coumoul X et al.

Birth Defects Research. Part C, Embryo Today : Reviews, 2003

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

Schweitzer DN et al.

American Journal of Medical Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."