Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Clinical Genetics

Volumn 89, Issue 3, 2016, Pages 359-366

  Koenighofer, M ^a   Hung, C Y ^b,c,h   Mccauley, J L ^c   Dallman, J ^d   Back, E J ^d   Mihalek, I ^e   Gripp, K W ^f   Sol Church, K ^c   Rusconi, P ^c   Zhang, Z ^g   Shi, G X ^g   Andres, D A ^g   Bodamer, O A ^b,h  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d Department of Biology   (United States)

^e BIOINFORMATICS INSTITUTE   (Singapore)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^g UNIVERSITY OF KENTUCKY   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Costello syndrome; Noonan syndrome; RASopathy; RIT1

Indexed keywords

ALANINE; GLYCINE; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; ISOLEUCINE; METHIONINE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE; MUTANT PROTEIN; RIT1 PROTEIN; UNCLASSIFIED DRUG; RAS PROTEIN; RIT1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EYE DEVELOPMENT; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYGROMA; LYMPHEDEMA; MALE; MISSENSE MUTATION; NONHUMAN; NOONAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RIT1 GENE; SIGNAL TRANSDUCTION; ZEBRA FISH; ANIMAL; DISEASE MODEL; EYE MALFORMATION; GENETICS; INFANT; LOWER LIMB; METABOLISM; NEWBORN; PROTEIN CONFORMATION; TRANSGENIC ANIMAL;

ADOLESCENT; ANIMALS; ANIMALS, GENETICALLY MODIFIED; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LOWER EXTREMITY; LYMPHEDEMA; MALE; MAP KINASE SIGNALING SYSTEM; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN CONFORMATION; RAS PROTEINS; ZEBRAFISH;

EID: 84958123210     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12608     Document Type: Article

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