Varaico: Literature-Extracted Genetic Variants

Gene:CDON
Variant:p.E922*
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CDON

NM_001378964.1:p.E922*

Associated Papers

CDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.

Farhud DD et al.

Iranian Journal of Public Health, 2024

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.

Obara-Moszyńska M et al.

Journal of Applied Genetics, 2021

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Reis LM et al.

Clinical Genetics, 2020

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Brauner R et al.

Plos One, 2020

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.

Bashamboo A et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."