Article
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Journal of medical genetics - 1 Jun 2014
Bear Kelly A, Solomon Benjamin D, Antonini Sonir, Arnhold Ivo J P, França Marcela M, Gerkes Erica H, Grange Dorothy K, Hadley Donald W, Jääskeläinen Jarmo, Paulo Sabrina S, Rump Patrick, Stratakis Constantine A, Thompson Elizabeth M, Willis Mary, Winder Thomas L, Jorge Alexander A L, Roessler Erich, Muenke Maximilian
Abstract excerpt
BACKGROUND: Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. OBJECTIVE: To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-of-function...
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