Associated Papers
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L et al.
European Journal of Endocrinology, 2017
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
Storr HL et al.
European Journal of Endocrinology, 2015
A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt.
Poukoulidou T et al.
Hormone Research in Paediatrics, 2014
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