Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 55-61

  Baas, Annette F ^a   Gabbett, Michael ^b   Rimac, Milan ^c   Kansikas, Minttu ^d   Raphael, Martine ^e   Nievelstein, Rutger A J ^e   Nicholls, Wayne ^f   Offerhaus, Johan ^a   Bodmer, Danielle ^g   Wernstedt, Annekatrin ^h   Krabichler, Birgit ^h   Strasser, Ulrich ⁱ   Nyström, Minna ^d   Zschocke, Johannes ^h   Robertson, Stephen P ^j   Van Haelst, Mieke M ^a,k   Wimmer, Katharina ^h  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁱ Pathology Laboratory Dr Obrist Dr Brunhuber   (Austria)

^j UNIVERSITY OF OTAGO   (New Zealand)

^k IMPERIAL COLLEGE LONDON   (United Kingdom)

more..

Author keywords

agenesis of corpus callosum; biallelic germline mutation; childhood cancer; constitutional mismatch repair deficiency syndrome; gray matter heterotopia

Indexed keywords

ANTINEOPLASTIC AGENT; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; TEMOZOLOMIDE;

ADENOSQUAMOUS CARCINOMA; ALLELE; ARTICLE; B CELL LYMPHOMA; BRAIN VENTRICLE DILATATION; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER SURGERY; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINEOUS MARRIAGE; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CORPUS CALLOSUM AGENESIS; DNA SEQUENCE; EXON SKIPPING; GENE DELETION; GLIOBLASTOMA; GRAY MATTER HETEROTOPIA; HEMIPARESIS; HEMIZYGOSITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHOBLASTOMA; MALE; MICROSATELLITE MARKER; MISMATCH REPAIR; MULTIMODAL CHEMOTHERAPY; MULTIPLE CYCLE TREATMENT; MUTATIONAL ANALYSIS; NEUROGENIC BLADDER; NEUROIMAGING; PAROTID GLAND CARCINOMA; PERIVENTRICULAR HETEROTOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RARE DISEASE; RESPIRATORY DISTRESS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; T CELL LYMPHOMA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; AGENESIS OF CORPUS CALLOSUM; CHILD; CHILD, PRESCHOOL; CONTRACTILE PROTEINS; DNA REPAIR ENZYMES; DNA REPAIR-DEFICIENCY DISORDERS; DNA-BINDING PROTEINS; FEMALE; GLIOBLASTOMA; HUMANS; MALE; MICROFILAMENT PROTEINS; MICROSATELLITE INSTABILITY; MUTATION; NEURONAL MIGRATION DISORDERS; NUCLEAR PROTEINS; PAROTID NEOPLASMS; PREGNANCY; SYNDROME;

EID: 84871244161     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.117     Document Type: Article

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