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Article

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.

American journal of medical genetics. Part A - 1 Jun 2015

Izumi Kosuke, Kellogg Emily, Fujiki Katsunori, Kaur Maninder, Tilton Richard K, Noon Sarah, Wilkens Alisha, Shirahige Katsuhiko, Krantz Ian D

Abstract excerpt

Pallister-Killian syndrome (PKS) is a multi-system developmental disorder caused by tetrasomy 12p that exhibits tissue-limited mosaicism. Probands with PKS often demonstrate a unique growth profile consisting of macrosomia at birth with deceleration of growth postnatally. We have previously demonstrated that cultured skin fibroblasts from PKS probands have significantly elevated expression of insulin-like growth...

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Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25900123
DOI: 10.1002/ajmg.a.36976

Genes

IGFBP2

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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