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Article

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

PloS one - 1 Jan 2012

Müller Eva, Dunstheimer Desiree, Klammt Jürgen, Friebe Daniela, Kiess Wieland, Kratzsch Jürgen, Kruis Tassilo, Laue Sandy, Pfäffle Roland, Wallborn Tillmann, Heidemann Peter H

Abstract excerpt

Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate postnatal growth...

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Source

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Identifiers

PMID: 22693602
DOI: 10.1371/journal.pone.0038220
PMCID: PMC3365032

Genes

IGF1
PCNT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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