Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel - Giedion syndrome

Journal of Medical Genetics

Volumn 48, Issue 2, 2011, Pages 117-122

  Filges, Isabel ^a   Shimojima, Keiko ^b   Okamoto, Nobuhiko ^c   Röthlisberger, Benno ^d   Weber, Peter ^a   Huber, Andreas R ^d   Nishizawa, Tsutomu ^e   Datta, Alexandre N ^a   Miny, Peter ^a   Yamamoto, Toshiyuki ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d CANTONAL HOSPITAL AARAU   (Switzerland)

^e JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COHORT ANALYSIS; FACE DEFORMITY; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENOMIC IN SITU HYBRIDIZATION; HUMAN; HYPERMETROPIA; LANGUAGE DISABILITY; MALE; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHINZEL GIEDION SYNDROME; SCHOOL CHILD; SET BINDING PROTEIN 1 GENE; WESTERN BLOTTING;

ABNORMALITIES, MULTIPLE; BLOTTING, WESTERN; CARRIER PROTEINS; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; FIBROBLASTS; HAND DEFORMITIES, CONGENITAL; HAPLOINSUFFICIENCY; HUMANS; JAPAN; LANGUAGE DEVELOPMENT DISORDERS; MENTAL RETARDATION; NAILS, MALFORMED; NUCLEAR PROTEINS; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79551616333     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.084582     Document Type: Article

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