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Article

Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.

The Journal of clinical endocrinology and metabolism - 1 May 1995

Longo N, Langley S D, Griffin L D, Elsas L J

Abstract excerpt

Leprechaunism is an autosomal recessive disorder caused by mutations in the insulin receptor gene and characterized by intrauterine and postnatal growth restriction, abnormal glucose homeostasis, and severe insulin-resistance. Here we report the biochemical and molecular characterization of a male patient, NZ, who died at 2 yr of age with this syndrome. 125I-Insulin binding to fibroblasts from the proband, his...

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Identifiers

PMID: 7538143
DOI: 10.1210/jcem.80.5.7538143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.PMID 7538143Read ↗

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Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.Semantic proximity Read ↗

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