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Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity

4 Sept 2017

Abstract excerpt

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. Objective To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome...

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Share to Genetic Syndromes and Imprinting
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28870985
DOI: 10.1530/eje-17-0453

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