New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations

Annals of Human Genetics

Volumn 80, Issue 1, 2016, Pages 50-62

  Cizmarova M ^a   Hlinkova K ^a   Bertok, S ^b   Kotnik, P ^b   Duba, H C ^c   Bertalan, R ^d   Polockova K ^e   Košťálová, Ľ ^a   Pribilincova Z ^a   Hlavata A ^a   Kovacs L ^a   Ilencikova D ^a,c  

^a University Children's Hospital   (Slovakia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^c University Teaching Hospital ^*  (Austria)

^d University Teaching Hospital   (Hungary)

^e Department of Pediatric Endocrinology   (Czech Republic)

Author keywords

BRAF; Cardio facio cutaneous syndrome; Central Europe; MAP2K1; Noonan syndrome; PTPN11; Rasopathies

Indexed keywords

B RAF KINASE; CBL PROTEIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; MESSENGER RNA; P21 ACTIVATED KINASE 3; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN; PTPN11 PROTEIN, HUMAN; RAS PROTEIN; RIT1 PROTEIN, HUMAN; SHOC2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRIA-HUNGARY; CARDIO FACIO CUTANEOUS SYNDROME; CHILD; COSTELLO SYNDROME; CRYPTORCHISM; CZECH REPUBLIC; EXON; FEMALE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; GERMANY; GREECE; HETEROZYGOSITY; HUMAN; INFANT; ITALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS NOONAN SYNDROME; NEXT GENERATION SEQUENCING; NOONAN SYNDROME; NOONAN SYNDROME WITH MULTIPLNE LENTIGO; ONCOGENE H RAS; ONCOGENE N RAS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SLOVAKIA; SLOVENIA; STATISTICAL SIGNIFICANCE; CAUCASIAN; CONGENITAL HEART MALFORMATION; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETICS; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRYPTORCHIDISM; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FACIES; FAILURE TO THRIVE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PULMONARY VALVE STENOSIS; RAS PROTEINS; SOS1 PROTEIN; YOUNG ADULT;

EID: 84955188968     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12140     Document Type: Article

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