Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina Rapp(German Center for Lung Research), Matthias Griese(Ludwig-Maximilians-Universität München), Ine Van Dijck(Universitair Ziekenhuis Leuven), Daisy Rymen(Universitair Ziekenhuis Leuven), Stavroula Ilia(University of Crete), Lucia Laugwitz(University Children's Hospital Tübingen), Linda Sofan(Philadelphia University), Marijke Proesmans(Universitair Ziekenhuis Leuven), Rebecca Buchert(Institute of Human Genetics), Simone Reu(University of Würzburg), Mieke Boon(Universitair Ziekenhuis Leuven), Stefanie Hornung, Birgit Kammer(München Klinik), George Briassoulis(University of Crete), Peter Witters(Universitair Ziekenhuis Leuven), Tawfiq Froukh(Philadelphia University), Tobias B. Haack(Technical University of Munich)
Cited by 24
Related Papers
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
|The American Journal of Human Genetics|2014|157
SYT1-associated neurodevelopmental disorder: a case series
|Brain|2018|143
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
|Brain|2018|133
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
|The American Journal of Human Genetics|2019|99