Corneal Vascularization Associated With a Novel PDGFRB Variant

Author:

Gladkauskas Titas1,Bruland Ove2,Abu Safieh Leen34,Edward Deepak P.356,Rødahl Eyvind17,Bredrup Cecilie17

Affiliation:

1. Department of Clinical Medicine, University of Bergen, Bergen, Norway

2. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

3. Research Department, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia

4. Bioinformatics and Computational Biology Department, Research Center, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia

5. Department of Ophthalmology and Visual Sciences, University of Illinois College of Medicine, Chicago, Illinois, United States

6. Department of Ophthalmology, Loyola University College of Medicine, Chicago, Illinois, United States

7. Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference56 articles.

1. Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions;Bredrup;Hum Mol Genet

2. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome;Bredrup;Eur J Hum Genet,2019

3. A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome;Johnston;Am J Hum Genet,2015

4. First case report of Penttinen syndrome from India;Aggarwal;Am J Med Genet A,2022

5. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome;Iznardo;Am J Med Genet A

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