Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling
A Nédélec, EM Guérit, G Dachy… - Journal of cellular …, 2022 - Wiley Online Library
Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet‐derived
growth factor (PDGF) receptor beta (encoded by the PDGFRB proto‐oncogene) and …
growth factor (PDGF) receptor beta (encoded by the PDGFRB proto‐oncogene) and …
Corneal Vascularization Associated With a Novel PDGFRB Variant
Purpose: The purpose of this study was to identify the genetic cause of aggressive corneal
vascularization in otherwise healthy children in one family. Further, to study molecular …
vascularization in otherwise healthy children in one family. Further, to study molecular …
Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report
H Ben, X Liu, P Zhang, J Hong - BMC ophthalmology, 2024 - Springer
Abstract Background Warburg-Cinotti syndrome is a rare syndrome caused by de novo or
inherited variants in discoding domain receptor tyrosine kinase 2 (DDR2). Only six cases …
inherited variants in discoding domain receptor tyrosine kinase 2 (DDR2). Only six cases …
Management of Pediatric Patient with Multiple Cranial, Intracranial, and Spinal Manifestations of Penttinen Syndrome: A Case Report
MV Ryan, R Alvarez, ER Elias, C Ihekweazu… - Pediatric …, 2024 - karger.com
Introduction: Penttinen premature aging syndrome is caused by mutations in the PDGFRB
gene. We describe the case of a 10-year-old girl with a de novo c. 1994T> C variant in …
gene. We describe the case of a 10-year-old girl with a de novo c. 1994T> C variant in …