Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant-Reference-Cited by-同舟云学术

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Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

Published:2021-10-27 Issue:1 Volume:101 Page:144-145
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Hernández Dorronsoro Unai¹^ORCID,Gawlinski Pawel²,Lasa‐Aranzasti Amaia³,Martínez‐Soroa Itziar⁴,Artola Aizalde Elena¹,Saez Villaverde Raquel⁵,Aguirre Rodríguez Cristina⁶,Satrustegi Aritziturri Miren¹

Affiliation:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14078

Reference5 articles.

1. Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

2. Phenotype expansion and development in Kosaki overgrowth syndrome

3. Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

4. A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis

5. Positive response to imatinib in PDGFRB ‐related Kosaki overgrowth syndrome

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