A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1277-1283

  Bartholdi, Deborah ^a   Stray Pedersen, Asbjørg ^b,c   Azzarello Burri, Silvia ^a   Kibaek, Maria ^d   Kirchhoff, Maria ^e   Oneda, Beatrice ^a   Rødningen, Olaug ^b   Schmitt Mechelke, Thomas ^f   Rauch, Anita ^a   Kjaergaard, Susanne ^e  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c Baylor College of Medicine   (Australia)

^d ODENSE UNIVERSITY HOSPITAL   (Denmark)

^e University of Copenhagen   (Denmark)

^f CHILDREN S HOSPITAL   (Switzerland)

Author keywords

HMGB1; Intellectual disability; KATNAL1; Microarray analysis; Microdeletion 13q12.3

Indexed keywords

HIGH MOBILITY GROUP B1 PROTEIN; UNTRANSLATED RNA;

ADULT; ARTICLE; ATOPIC DERMATITIS; CASE REPORT; CHILD; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CLINICAL FEATURE; FACIES; FEEDING DIFFICULTY; FEMALE; GENE; HETEROZYGOSITY; HMGB1 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; KATNAL1 GENE; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA GENE; SCHOOL CHILD; YOUNG ADULT;

EID: 84898926117     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36439     Document Type: Article

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