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Article

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Nobile Stefano, Semple Robert K, Carnielli Virgilio P

Abstract excerpt

Donohue syndrome (DS) is a rare autosomal recessive condition caused by mutations in the gene encoding the insulin receptor. It is characterised by severe metabolic and endocrine derangement, prenatal and postnatal linear growth impairment, soft tissue overgrowth, and poor development of adipose...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22768670
DOI: 10.1515/jpem-2011-0448

Genes

INSR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22768670-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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