Search results for " RASopathies"

showing 2 items of 2 documents

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

2016

International audience

0301 basic medicinesignaling pathwaymedicine.medical_specialtyhrasDermatologynoonanBiologyWoolly hair nevusBiochemistry030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineMolecular BiologyComputingMilieux_MISCELLANEOUSsyringocystadenoma papilliferumCell BiologyCortical dysplasiamedicine.diseaseDermatologyPhacomatosis pigmentokeratotica030104 developmental biologyMutation (genetic algorithm)mosaic rasopathies[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

2022

Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…

Heart Defects CongenitalComparative Genomic HybridizationEctodermal DysplasiaPregnancyCFCS RASopathies Contiguous gene syndrome Array-CGH Genotype-phenotype correlations HPS Case reportFaciesHumansFemaleSyndromeHernia UmbilicalFailure to ThriveItalian Journal of Pediatrics
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