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Article

Intronic IGF1R variant causing aberrant splicing, short stature, and neurological impairments.

Journal of molecular endocrinology - 1 Oct 2025

Kerem Liya, Rips Jonathan, Zaretsky Adam, Grundwag Itay, Cohen Ehud, Yanovsky-Dagan Shira, Harel Tamar

Abstract excerpt

Approximately 10% of children born small for gestational age (SGA) fail to achieve catch-up growth, resulting in persistent short stature and eligibility for growth hormone (GH) therapy under established guidelines. Pathogenic variants in insulin-like growth factor 1 receptor (IGF1R) are associated with SGA, syndromic short stature, neurocognitive impairment, and variable responsiveness to GH therapy. This study...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41042543
DOI: 10.1530/JME-25-0002

Genes

IGF1R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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