Arnold-chiari malformation in noonan syndrome and other syndromes of the RAS/MAPK pathway;Malformación de Arnold-Chiari en el síndrome de Noonan y otros síndromes de la vía RAS/MAPK

Revista de Neurologia

Volumn 60, Issue 9, 2015, Pages 408-412

  Ejarque, Ismael ^b   Millán Salvador, José M ^a,c   Oltra, Silvestre ^c   Pesudo Martínez, José V ^d   Beneyto, Magdalena ^c   Pérez Aytés, Antonio ^e  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b Centro de Salud Nazaret   (Spain)

^c Unidad de Genética y Diagnóstico Prenatal   (Spain)

^d Servicio de Neonatología   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Arnold Chiari malformation; LEOPARD syndrome; Noonan syndrome; PTPN11; RAS MAPK pathway; RASopathies

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; PROTEIN P21; PTPN11 PROTEIN, HUMAN;

ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; CASE REPORT; CHILD; DECOMPRESSION SURGERY; FEMALE; GENE MUTATION; HUMAN; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PULMONARY VALVE STENOSIS; ARNOLD-CHIARI MALFORMATION; COMPLICATION; EXON; GENETICS; LEOPARD SYNDROME; METABOLISM; MISSENSE MUTATION; PHENOTYPE; PHYSIOLOGY; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; SIGNAL TRANSDUCTION;

ADULT; ARNOLD-CHIARI MALFORMATION; CHILD; DECOMPRESSION, SURGICAL; EXONS; FEMALE; HUMANS; LEOPARD SYNDROME; MAP KINASE SIGNALING SYSTEM; MUTATION, MISSENSE; NOONAN SYNDROME; PHENOTYPE; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION;

EID: 84928998835     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.6009.2014541     Document Type: Article

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