PDGFRBmutation causes autosomal-dominant Penttinen syndrome
Author:
Affiliation:
1. Department of Medical Genetics, Center for Molecular Medicine and Therapeutics; Canadian Pharmacogenomic Network for Drug Safety; Vancouver Canada
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference2 articles.
1. New progeroid disorder;Penttinen;Am J Med Genet,1997
2. Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type;Zufferey;Am J Med Genet A,2013
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1. Management of Pediatric Patient with Multiple Cranial, Intracranial, and Spinal Manifestations of Penttinen Syndrome: A Case Report;Pediatric Neurosurgery;2024-08-12
2. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome;American Journal of Medical Genetics Part A;2020-12-31
3. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy;American Journal of Medical Genetics Part A;2020-06-05
4. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2019-11-11
5. Expansion of the phenotype of Kosaki overgrowth syndrome;American Journal of Medical Genetics Part A;2017-06-22
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