Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2263-2268

  Gripp, Karen W ^a   Stabley, Deborah L ^a   Geller, Peter L ^a   Hopkins, Elizabeth ^a   Stevenson, David A ^b   Carey, John C ^b   Sol Church, Katia ^a  

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

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Costello syndrome; Germ cell mosaicism; HRAS; Maternal origin; Recurrence risk

Indexed keywords

GENOMIC DNA;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOME MOSAICISM; CASE REPORT; COSTELLO SYNDROME; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; ONCOGENE H RAS; PREDICTION; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ADULT; ALLELES; AMINO ACID SUBSTITUTION; COSTELLO SYNDROME; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; PROTO-ONCOGENE PROTEINS P21(RAS); SIBLINGS;

EID: 81155162422     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34150     Document Type: Article

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