TY  - GEN
AU  - Baas,Annette F
AU  - Gabbett,Michael
AU  - Rimac,Milan
AU  - Kansikas,Minttu
AU  - Raphael,Martine
AU  - Nievelstein,Rutger Aj
AU  - Nicholls,Wayne
AU  - Offerhaus,Johan
AU  - Bodmer,Danielle
AU  - Wernstedt,Annekatrin
AU  - Krabichler,Birgit
AU  - Strasser,Ulrich
AU  - Nyström,Minna
AU  - Zschocke,Johannes
AU  - Robertson,Stephen P
AU  - van Haelst,Mieke M
AU  - Wimmer,Katharina
TI  - Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
SN  - 1476-5438
PY  - 2013///0520
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Adenosine Triphosphatases
KW  - Agenesis of Corpus Callosum
KW  - Child
KW  - Child, Preschool
KW  - Contractile Proteins
KW  - DNA Repair Enzymes
KW  - DNA Repair-Deficiency Disorders
KW  - etiology
KW  - DNA-Binding Proteins
KW  - Female
KW  - Filamins
KW  - Glioblastoma
KW  - complications
KW  - Humans
KW  - Male
KW  - Malformations of Cortical Development, Group II
KW  - Microfilament Proteins
KW  - Microsatellite Instability
KW  - Mismatch Repair Endonuclease PMS2
KW  - MutL Protein Homolog 1
KW  - Mutation
KW  - Nuclear Proteins
KW  - Parotid Neoplasms
KW  - Pregnancy
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2012.117
ER  -