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Article

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

International journal of dermatology - 1 Feb 2013

Mohanan Saritha, Chandrashekar Laxmisha, Semple Robert K, Thappa Devinder M, Parameswaran Narayanan, Negi Vir S, Ramassamy Sivaranjini

Abstract excerpt

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulat...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23347304
DOI: 10.1111/j.1365-4632.2012.05665.x

Genes

INSR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23347304-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.PMID 23347304Read ↗

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INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Semantic proximity Read ↗

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene MutationSemantic proximity Read ↗

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.Semantic proximity Read ↗

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance SyndromeSemantic proximity Read ↗

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall SyndromeSemantic proximity Read ↗

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR GeneSemantic proximity Read ↗

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.Semantic proximity Read ↗

Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.Semantic proximity Read ↗

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneSemantic proximity Read ↗

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