Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Suerink, M.; Potjer, T.P.; Versluijs, A.B.; Broeke, S.W. ten; Tops, C.M.; Wimmer, K.; Nielsen, M. (2018)

Article / Letter to editor

• bMMRD
• cafe-au-lait macules
• CMMRD
• hereditary cancer syndromes
• HNPCC
• Lynch syndrome
• PMS2
• recessive genetic conditions

• All authors: Suerink, M.; Potjer, T.P.; Versluijs, A.B.; Broeke, S.W. ten; Tops, C.M.; Wimmer, K.; Nielsen, M.
• Date: 2018-01-31
• Journal: Clinical Genetics
• Volume: 93
• Issue: 1
• Pages: 134 - 137
• DOI: doi:10.1111/cge.13053