Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature

Background. Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. Case. Here we p...

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Bibliographic Details
Main Authors: Derya Özyörük, Emel Ünal Cabı, Nurdan Taçyıldız, Ferda Pınarlı, Ayşe Oğuz Erdoğan, Şahin Hanalioğlu, Arzu Yazal Erdem, Arzu Meltem Demir
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2021-10-01
Series:The Turkish Journal of Pediatrics
Subjects:
MSH 6 mutation
childhood cancer
constitutional mismatch repair deficiency syndrome
Online Access:https://turkjpediatr.org/article/view/372

Internet

https://turkjpediatr.org/article/view/372

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