Article

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

2018-07-09

Abstract excerpt

<h4>Background</h4> GLI2 encodes for a transcription factor that controls the expression of several genes in the Hedgehog pathway. Mutations in GLI2 have been described as causative of a spectrum of clinical phenotypes, notably holoprosencephaly, hypopituitarism and postaxial polydactyl. <h4>Methods:</h4> In order to identify causative genetic variant, we performed exome sequencing of a trio from an Italian famil...

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Literature Corpus work: 3bcbb1a9-a9a4-5add-a410-d8d25b690eb8
DOI: 10.1101/365494

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