Two novel germline KRAS mutations: Expanding the molecular and clinical phenotype

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 590-594

  Stark, Z ^a   Gillessen Kaesbach, G ^b   Ryan, M M ^c,d   Cirstea, I C ^e   Gremer, L ^e   Ahmadian, M R ^e   Savarirayan, R ^a,d   Zenker, M ^f,g  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^f UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^g UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

CFC; KRAS; Neuropathy; Noonan; Vertical transmission

Indexed keywords

K RAS PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; EXON; FEMALE; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROPATHIC JOINT DISEASE; ONCOGENE K RAS; PEDIGREE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; VERTICAL TRANSMISSION;

ARTHROPATHY, NEUROGENIC; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; NOONAN SYNDROME; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTO-ONCOGENE PROTEINS; RAS PROTEINS;

EID: 84860005516     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01754.x     Document Type: Article

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