Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.E544_K545Splc
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GLI2

NM_001374353.1:p.E544_K545Splc

Associated Papers

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.

Yuan X et al.

Bmc Pediatrics, 2025

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review.

Zhang Y et al.

Frontiers in Endocrinology, 2023

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.

Elward C et al.

Clinical Case Reports, 2020

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Demiral M et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

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