Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

Clin Genet. 2022 Jan;101(1):144-145. doi: 10.1111/cge.14078. Epub 2021 Oct 27.

Authors

Unai Hernández Dorronsoro¹, Pawel Gawlinski², Amaia Lasa-Aranzasti³, Itziar Martínez-Soroa⁴, Elena Artola Aizalde¹, Raquel Saez Villaverde⁵, Cristina Aguirre Rodríguez⁶, Miren Satrustegi Aritziturri¹

Affiliations

¹ Department of Pediatrics, Donostia University Hospital, Donostia, Spain.
² Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
³ Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain.
⁴ Department of Ophthalmology, Donostia University Hospital, Donostia, Spain.
⁵ Department of Genetics, Donostia University Hospital, Donostia, Spain.
⁶ Department of Internal Medicine, Donostia University Hospital, Donostia, Spain.

PMID: 34708400
DOI: 10.1111/cge.14078

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Growth Disorders / diagnosis*
Growth Disorders / drug therapy
Growth Disorders / genetics*
Humans
Mutation*
Phenotype
Quality of Life
Receptor, Platelet-Derived Growth Factor beta / chemistry
Receptor, Platelet-Derived Growth Factor beta / genetics*
Structure-Activity Relationship
Syndrome

Substances

PDGFRB protein, human
Receptor, Platelet-Derived Growth Factor beta