Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2310-2316

  Gos, Monika ^a   Fahiminiya, Somayyeh ^b   Poznański, Jaroslaw ^c   Klapecki, Jakub ^a   Obersztyn, Ewa ^a   Piotrowicz, Malgorzata ^d   Wierzba, Jolanta ^e   Posmyk, Renata ^f   Bal, Jerzy ^a   Majewski, Jacek ^b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b MCGILL UNIVERSITY   (Canada)

^c INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^d POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

^e MEDICAL UNIVERSITY OF GDANSK   (Poland)

^f NZOZ Center for Medical Genetics   (Poland)

Author keywords

Noonan syndrome; RAS MAPK pathway; RASopathy; RIT1; Whole exome sequencing

Indexed keywords

AMINO ACID; GUANOSINE TRIPHOSPHATASE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE P38; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN; TRANSCRIPTION FACTOR; RAS PROTEIN; RIT1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BODY DYSMORPHIC DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC HETEROGENEITY; HUMAN; HYPERTELORISM; LOW SET EAR; MALE; NOONAN SYNDROME; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; PTPN11 GENE; RAF1 GENE; RIT1 GENE; SOS1 GENE; AMINO ACID SEQUENCE; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; GENETIC HETEROGENEITY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NOONAN SYNDROME; RAS PROTEINS;

EID: 84905912406     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36646     Document Type: Article

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