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Paper Details

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Am J Med Genet A
4
2021
BRAF, BRAF and MAP2K2 variants, Cardiofaciocutaneous syndrome, Costello syndrome, HRAS, LZTR1, MAP2K2 variants, NF1, NS, Neurofibromatosis-NS, Noonan syndrome, PTPN11, PTPN11 variant, RAF1, RASopathies, RIT1, RIT1 variants, RIT1, and RAF1 variants, Ras, SOS1, SOS1,, cleft palate, hypertrophic cardiomyopathy, intellectual disability, knee dislocation, mitogen-activated protein kinase, patient, patients, pulmonary stenosis, pyloric stenosis
Author NameAffiliation
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg
Beyhan T??ys??zCerrahpasa Medical School, Istanbul University-Cerrahpasa
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