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Article

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.

The Journal of clinical endocrinology and metabolism - 1 Mar 2010

Kruis Tassilo, Klammt Jürgen, Galli-Tsinopoulou Assimina, Wallborn Tillmann, Schlicke Marina, Müller Eva, Kratzsch Jürgen, Körner Antje, Odeh Rasha, Kiess Wieland, Pfäffle Roland

Abstract excerpt

BACKGROUND: IGF-I receptor (IGF1R) plays an essential role in human intrauterine and postnatal development. Few heterozygous mutations in IGF1R leading to IGF-I resistance and intrauterine and postnatal growth retardation have been described to date. OBJECTIVE: The clinical and functional relevance of a novel heterozygous IGF1R mutation identified in a girl with short stature and six relatives was evaluated....

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PMID: 20103656
DOI: 10.1210/jc.2009-1433

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

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