Wilms'tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 473-479

  Hämäläinen, Rikka H ^a   Mowat, D ^b,c   Gabbett, M T ^b   O'Brien, T A ^b,c   Kallijarvi J ^a   Lehesjoki, A E ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b SYDNEY CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Growth disorder; Mulibrey; Mutation; Nanism; TRIM37; Wilms' tumor

Indexed keywords

DACTINOMYCIN; DNA; DOXORUBICIN; GENE PRODUCT; RNA; TRIPARTITE MOTIF PROTEIN 37; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VINCRISTINE;

ABDOMINAL DISTENSION; ANIMAL CELL; ARTICLE; AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER STAGING; CASE REPORT; CELLULAR DISTRIBUTION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DNA EXTRACTION; EARLY DIAGNOSIS; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC TRANSFECTION; GROWTH DISORDER; HUMAN; HYPERTENSION; IMMUNOFLUORESCENCE; KARYOTYPE; KIDNEY MASS; LIVER METASTASIS; MISSENSE MUTATION; MULIBREY NANISM; NEPHRECTOMY; NEPHROBLASTOMA; NONHUMAN; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SEQUENCE ANALYSIS; SHORT STATURE; SILVER RUSSELL SYNDROME; SITE DIRECTED MUTAGENESIS;

EID: 33750986840     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00700.x     Document Type: Article

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