Genetic analysis of IRF6 , a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency

ConclusionThis is the first report ofIRF6 analysis in an IGHD cohort. We found one new mutation which, based on in silico analysis, could be of functional relevance. However, we did not find any mutations in the other patients. Therefore, we conclude thatIRF6 defects are rare in IGHD patients and further research should focus on new candidate genes.
Source: Pituitary - Category: Endocrinology Source Type: research