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.

Patients carrying the protective minor (A) allele showed a trend towards a less severe phenotype, which was consistent for all clinical parameters measured: they had a higher GH peak during arginine testing, a larger height SDS and a higher IGF-1 SDS at start of GH treatment.

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