Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

Recurrent PDGFRB mutations in unicentric Castleman disease

(2019) Zhaoming Li et al.   LEUKEMIA

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

(2019) Yigit Karasozen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

(2019) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

(2019) Anne Guimier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefining the Etiologic Landscape of Cerebellar Malformations

(2019) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation

(2018) Z Zhang et al.   ACTA DERMATO-VENEREOLOGICA

Myofibromatosis presenting as reticulated vascular changes and subcutaneous atrophy in patient with somatic mosaicism of PDGFRB mutation

(2018) C. Zhong et al.   BRITISH JOURNAL OF DERMATOLOGY

Phenotype expansion and development in Kosaki overgrowth syndrome

(2018) P. Gawliński et al.   CLINICAL GENETICS

Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis

(2018) Martin Sramek et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature

(2018) Raniah Al Qawahmed et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

(2018) Cecilie Bredrup et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence

(2017) Natalia Murray et al.   European Journal of Medical Genetics

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

(2017) Dinel Pond et al.   GENETICS IN MEDICINE

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PDGFRBmutation causes autosomal-dominant Penttinen syndrome

(2015) F. Aminkeng   CLINICAL GENETICS

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

(2015) F A Arts et al.   ONCOGENE

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

(2013) Yee Him Cheung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

(2013) John A. Martignetti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

(2013) Flore Zufferey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance

(2012) Ketan Kulkarni et al.   JOURNAL OF PEDIATRIC SURGERY

Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement

(2012) Laura Holzer-Fruehwald et al.   NEURORADIOLOGY

A rare case of infantile myofibromatosis and review of literature

(2011) Peter A. Hausbrandt et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis

(2009) Benoit Brasseur et al.   PEDIATRIC NEPHROLOGY