Transmission of the rare HRAS mutation (c. 173C>T; p.T58I) further illustrates its attenuated phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1095-1101

  Gripp, Karen W ^a   Hopkins, Elizabeth ^a   Serrano, Alvaro ^b   Leonard, Norma J ^c   Stabley, Deborah L ^a   Sol Church, Katia ^a  

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

^b UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Costello syndrome; HRAS; P.T58I; Recurrence risk; Vertical transmission

Indexed keywords

GENOMIC DNA;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; COGNITIVE DEFECT; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FUNCTIONAL DISEASE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEART DISEASE; HEART RIGHT VENTRICLE DUPLICATION; HEREDITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MACROCEPHALY; MALE; MITRAL VALVE PROLAPSE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHOC2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; VERTICAL TRANSMISSION;

ABNORMALITIES, MULTIPLE; COSTELLO SYNDROME; DNA MUTATIONAL ANALYSIS; FAMILY; GENES, RAS; HUMANS; MACROCEPHALY; MOSAICISM; MUTATION; PHENOTYPE;

EID: 84859947952     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35294     Document Type: Article

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