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Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

12 Nov 2014

Abstract excerpt

Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular...

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PMID: 25393061
DOI: 10.1002/ajmg.a.36793

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