Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Nature Genetics

Volumn 44, Issue 3, 2012, Pages 277-284

  Astuti, Dewi ^a   Morris, Mark R ^a,b   Cooper, Wendy N ^a   Staals, Raymond H J ^c   Wake, Naomi C ^a   Fews, Graham A ^d   Gill, Harmeet ^a   Gentle, Dean ^a   Shuib, Salwati ^a   Ricketts, Christopher J ^a   Cole, Trevor ^d   Van Essen, Anthonie J ^e   Van Lingen, Richard A ^f   Neri, Giovanni ^g   Opitz, John M ^h   Rump, Patrick ^e   Stolte Dijkstra, Irene ^e   Müller, Ferenc ^a   Pruijn, Ger J M ^c   Latif, Farida ^a   Maher, Eamonn R ^a,d   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF WOLVERHAMPTON   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f ISALA HOSPITAL   (Netherlands)

^g CATHOLIC UNIVERSITY   (Italy)

^h Human Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EXORIBONUCLEASE;

ARTICLE; CANCER CELL CULTURE; CANCER GROWTH; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DIS3L2 GENE; EXOSOME; FEMALE; FUNGAL STRAIN; GENE; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GROWTH DISORDER; GROWTH REGULATION; HUMAN; MALE; NEPHROBLASTOMA; PERLMAN SYNDROME; PRIORITY JOURNAL; RNA METABOLISM; SCHIZOSACCHAROMYCES POMBE;

ADOLESCENT; BASE SEQUENCE; CELL DIVISION; CELL PROLIFERATION; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; EXORIBONUCLEASES; FETAL MACROSOMIA; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GENES, CDC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HELA CELLS; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY NEOPLASMS; MOLECULAR SEQUENCE DATA; RNA; SEQUENCE ANALYSIS, DNA; WILMS TUMOR;

SCHIZOSACCHAROMYCES POMBE;

EID: 84857644144     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1071     Document Type: Article

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