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Article

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2017

Qin Litao, Li Xiaobo, Hou Qiaofang, Wang Hongdan, Lou Guiyu, Li Tao, Wang Li, Liu Hongyan, Li Xichuan, Liao Shixiu

Abstract excerpt

Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor (INSR) gene. Here, we have reported the clinical, molecular, and biochemical characterizations of a patient with DS. In this article, we have also reported a case with 2 novel INSR...

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Share to Amino Acid Sequence
Share to Antigens, CD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Child, Preschool

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Share to Receptor, Insulin

Source

Identifiers

PMID: 28803747
DOI: 10.1016/j.cca.2017.08.007

Genes

INSR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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