Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. [electronic resource]
Producer: 20130520Description: 55-61 p. digitalISSN:- 1476-5438
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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