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Article

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Clinical dysmorphology - 1 Apr 2026

Gladkauskas Titas, Cristea Ileana, Mehrasa Roya, Bruland Ove, Rustad Cecilie F, Faivre Laurence, Rødahl Eyvind, Bredrup Cecilie

Abstract excerpt

OBJECTIVE: Kosaki overgrowth syndrome (KOGS) is a rare genetic disorder linked to germline variants in the platelet-derived growth factor receptor beta gene ( PDGFRB ) that is characterized by postnatal overgrowth, hyperelastic skin, lipodystrophy, and craniofacial anomalies. This study aimed to summarize clinical and genetic data from reported KOGS cases and investigate the molecular consequences of two...

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Craniofacial Abnormalities
Fibroblasts
Growth Disorders
Infant
Lipodystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphorylation

Receptor, Platelet-Derived Growth Factor beta

Signal Transduction

Source

Identifiers

PMID: 41223009
DOI: 10.1097/MCD.0000000000000547

Genes

PDGFRB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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