• A case series of a mother and two daughters with a <em>GLI2</em> gene deletion demonstrating variable expressivity and incomplete penetrance
• A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome
• A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
• Case report: A case of Culler-Jones syndrome caused by a novel mutation of <em>GLI2</em> gene and literature review
• Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
• Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene
• Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report
• Growth hormone deficiency in the Rothmund-Thomson syndrome
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model
• Hypopituitarism in association with postaxial polydactyly
• Imparied calcitonin secretion in patients with Williams syndrome
• Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia
• The Börjeson-Forssman-Lehmann syndrome
• Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism