Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Author:

Baas Annette F,Gabbett Michael,Rimac Milan,Kansikas Minttu,Raphael Martine,Nievelstein Rutger AJ,Nicholls Wayne,Offerhaus Johan,Bodmer Danielle,Wernstedt Annekatrin,Krabichler Birgit,Strasser Ulrich,Nyström Minna,Zschocke Johannes,Robertson Stephen P,van Haelst Mieke M,Wimmer Katharina

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference44 articles.

1. Wimmer K, Etzler J : Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 2008; 124: 105–122.

2. Jiricny J : The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 2006; 7: 335–346.

3. Ricciardone MD, Ozcelik T, Cevher B et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999; 59: 290–293.

4. Wang Q, Lasset C, Desseigne F et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999; 59: 294–297.

5. Wimmer K, Kratz CP : Constitutional mismatch repair-deficiency syndrome. Haematologica 2010; 95: 699–701.

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