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10.1002/ajmg.a.37552

http://scihub22266oqcxt.onion/10.1002/ajmg.a.37552
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26842671!ä!26842671

suck abstract from ncbi


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pmid26842671      Am+J+Med+Genet+A 2016 ; 170A (5): 1251-6
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  • Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome #MMPMID26842671
  • Cabrera S; Morel C; Tartaglia MC
  • Am J Med Genet A 2016[May]; 170A (5): 1251-6 PMID26842671show ga
  • Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS. There is tremendous phenotypic heterogeneity in patients with CFCS and so confirmation of diagnosis requires genetic testing. Neurologic and/or cognitive symptoms are present in almost all CFCS individuals. Little is known about cognitive function in older patients with CFCS. In this report, we present the cognitive, neuropsychiatric, and imaging findings of a patient diagnosed with CFCS who after having remained stable developed progressive cognitive/behavioral and motor decline.
  • |Adult[MESH]
  • |Baclofen/administration & dosage[MESH]
  • |Brain/drug effects/pathology[MESH]
  • |Cognitive Dysfunction/diagnostic imaging/drug therapy/genetics/*physiopathology[MESH]
  • |Ectodermal Dysplasia/diagnostic imaging/drug therapy/genetics/*physiopathology[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/diagnostic imaging/drug therapy/genetics/*physiopathology[MESH]
  • |Heart Defects, Congenital/*diagnostic imaging/drug therapy/genetics/physiopathology[MESH]
  • |Humans[MESH]
  • |Male[MESH]


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