TY  - GEN
AU  - Bartsch,Oliver
AU  - Schindler,Detlev
AU  - Beyer,Vera
AU  - Gesk,Stefan
AU  - van't Slot,Ruben
AU  - Feddersen,Isa
AU  - Buijs,Arjan
AU  - Jaspers,Nicolaas G J
AU  - Siebert,Reiner
AU  - Haaf,Thomas
AU  - Poot,Martin
TI  - A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12
SN  - 1878-0849
PY  - 2012///0605
KW  - Apoptosis Regulatory Proteins
KW  - genetics
KW  - Ataxia Telangiectasia
KW  - diagnosis
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Cell Cycle Proteins
KW  - Child
KW  - Chromosome Duplication
KW  - Chromosome Inversion
KW  - Chromosomes, Human, Pair 19
KW  - DNA Damage
KW  - DNA-Binding Proteins
KW  - Female
KW  - Humans
KW  - Lymphocytes
KW  - cytology
KW  - Mental Disorders
KW  - Metaphase
KW  - Microcephaly
KW  - Protein Serine-Threonine Kinases
KW  - Saliva
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2011.08.001
ER  -