Clinical and molecular analysis of RASopathies in a group of Turkish patients

Clinical Genetics

Volumn 83, Issue 2, 2013, Pages 181-186

  Şimşek Kiper, Pö ^a   Alanay, Y ^b   Gulhan B ^a   Lissewski, C ^c   Turkyilmaz D ^a   Alehan, D ^a   Cetin M ^a   Utine, G E ^a   Zenker, M ^c   Boduroglu K ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ACIBADEM UNIVERSITY   (Turkey)

^c UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

BRAF; Cardio facio cutaneous; Costello; HRAS; LEOPARD; Noonan; PTPN11; SHOC2; SOS1

Indexed keywords

B RAF KINASE; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; PROTHROMBIN; SHOC2 PROTEIN; SOS PROTEIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ADOLESCENT; ARTICLE; BLOOD CLOTTING DISORDER; CARDIO FACIO CUTANEOUS SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; COSTELLO SYNDROME; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERNATIONAL NORMALIZED RATIO; LEOPARD SYNDROME; MALE; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; ONCOGENE N RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; RASOPATHY; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; COSTELLO SYNDROME; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEOPARD SYNDROME; MAP KINASE KINASE 1; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS P21(RAS); RAS PROTEINS; SOS1 PROTEIN; TURKEY;

EID: 84872028899     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01875.x     Document Type: Article

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