Paediatric Diffuse Glioma in Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) – Report of Two Affected Sisters

Volkmar H. Hans, Alexander Leis, Matthias Angrés, Jörg Felsberg, Bernhard Erdlenbruch, Martine Muleris & Ulrich J. Knappe
CMMRD (OMIM #276300, a.k.a. Turcot-syndrome) is a rare disorder with recessive inheritance caused by biallelic mismatch repair gene mutations. The syndrome is associated with multiple childhood tumours, most commonly occurring in brain and digestive tract, and haematological malignancies. We report[for full text, please go to the a.m. URL]
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