Work

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

Year: 2025

Type: article

Source: Clinical Dysmorphology

DOI: 10.1097/mcd.0000000000000547

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

Institutions: University of Bergen, Haukeland University Hospital, Telemark Hospital, Inserm, Université de Bourgogne, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4416148694

FWCI:

Cites: 30

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