Further evidence of the importance of RIT1 in Noonan syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2952-2957

  Bertola, Débora R ^a   Yamamoto, Guilherme L ^a   Almeida, Tatiana F ^a   Buscarilli, Michelle ^a   Jorge, Alexander A L ^a   Malaquias, Alexsandra C ^a   Kim, Chong A ^a   Takahashi, Vanessa N V ^a   Passos Bueno, Maria Rita ^a   Pereira, Alexandre C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Left ventricular hypertrophy; Noonan syndrome; RAS MAPK signaling; RIT1; Whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIRTH WEIGHT; BRAZILIAN; CHILD; CLINICAL ARTICLE; FEMALE; GENE FREQUENCY; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERPIGMENTATION; MACROCEPHALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NOONAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RIT1 GENE; SCHOOL CHILD; SHORT STATURE; WRINKLE; CASE REPORT; FACIES; GENETIC ASSOCIATION STUDY; GENETIC HETEROGENEITY; GENETICS; MUTATION; RADIOGRAPHY; SCOLIOSIS; YOUNG ADULT;

FENOTEROL; RAS PROTEIN; RIT1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; FENOTEROL; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; MALE; MUTATION; NOONAN SYNDROME; RAS PROTEINS; SCOLIOSIS; YOUNG ADULT;

EID: 84911363456     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36722     Document Type: Article

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