TY  - GEN
AU  - Bartholdi,Deborah
AU  - Stray-Pedersen,Asbjørg
AU  - Azzarello-Burri,Silvia
AU  - Kibaek,Maria
AU  - Kirchhoff,Maria
AU  - Oneda,Beatrice
AU  - Rødningen,Olaug
AU  - Schmitt-Mechelke,Thomas
AU  - Rauch,Anita
AU  - Kjaergaard,Susanne
TI  - A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
SN  - 1552-4833
PY  - 2015///0819
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 13
KW  - Comparative Genomic Hybridization
KW  - Dermatitis, Atopic
KW  - Eczema
KW  - Facies
KW  - Female
KW  - HMGB1 Protein
KW  - Humans
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Katanin
KW  - Male
KW  - Microcephaly
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36439
ER  -