Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Baas, Annette F
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. [electronic resource] - European journal of human genetics : EJHG Jan 2013 - 55-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2012.117 doi
Adaptor Proteins, Signal Transducing--genetics
Adenosine Triphosphatases--genetics
Agenesis of Corpus Callosum--genetics
Child
Child, Preschool
Contractile Proteins--genetics
DNA Repair Enzymes--genetics
DNA Repair-Deficiency Disorders--etiology
DNA-Binding Proteins--genetics
Female
Filamins
Glioblastoma--complications
Humans
Male
Malformations of Cortical Development, Group II--genetics
Microfilament Proteins--genetics
Microsatellite Instability
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1
Mutation
Nuclear Proteins--genetics
Parotid Neoplasms--complications
Pregnancy
Syndrome
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. [electronic resource] - European journal of human genetics : EJHG Jan 2013 - 55-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2012.117 doi
Adaptor Proteins, Signal Transducing--genetics
Adenosine Triphosphatases--genetics
Agenesis of Corpus Callosum--genetics
Child
Child, Preschool
Contractile Proteins--genetics
DNA Repair Enzymes--genetics
DNA Repair-Deficiency Disorders--etiology
DNA-Binding Proteins--genetics
Female
Filamins
Glioblastoma--complications
Humans
Male
Malformations of Cortical Development, Group II--genetics
Microfilament Proteins--genetics
Microsatellite Instability
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1
Mutation
Nuclear Proteins--genetics
Parotid Neoplasms--complications
Pregnancy
Syndrome