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Article

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Human mutation - 1 Nov 2015

Prontera Paolo, Micale Lucia, Verrotti Alberto, Napolioni Valerio, Stangoni Gabriela, Merla Giuseppe

Abstract excerpt

Here, we describe a child, born from consanguineous parents, with clinical features of SHORT syndrome, high IGF1 levels, developmental delay, CNS defects, and marked progeroid appearance. By exome sequencing, we identified a new homozygous c.2201G>T missense mutation in the IGF1R gene. Proband's parents and other relatives, all heterozygous carriers of the mutation, presented with milder phenotype including high...

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Source

Identifiers

PMID: 26252249
DOI: 10.1002/humu.22853

Genes

IGF1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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