Disease: Hypopituitarism postaxial polydactyly
- A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
- Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
- Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations
- Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations
- 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 <em>GLI2</em> Gene
- 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
- Familial Pallister-Hall syndrome: case report and hormonal evaluation
- GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly
- Hypopituitarism in association with postaxial polydactyly
- Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies
- Laryngeal cleft: report of eight patients and a review of the literature
- Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
- Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism
- Role of GLI2 in hypopituitarism phenotype
- Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism
- Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly