Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
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DOI: 10.1530/eje-17-0453
Abstract: BACKGROUND GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown.… read more here.
Keywords: diagnosis; whole exome; igf insensitivity; candidate gene ... See more keywords