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Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines

Crossref DOI link: https://doi.org/10.1186/s13000-026-01759-x

Published Online: 2026-01-22

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Vazzano Goldstone, Jennifer https://orcid.org/0000-0001-9977-1259
Logan, Suzanna J.

Wilkins, Benjamin J.

MacFarland, Suzanne P.

Conces, Miriam

Boué, Daniel R.

Pierson, Christopher R.

Kahwash, Samir

Schieffer, Kathleen M.

Cottrell, Catherine E.

Colace, Susan

Zajo, Kristin

Shenoy, Archana https://orcid.org/0000-0003-0733-5260
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Text and Data Mining valid from 2026-01-22

Version of Record valid from 2026-02-16
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Article History

Received: 10 September 2025

Accepted: 11 January 2026

First Online: 22 January 2026

Declarations

:

: This study was conducted under a research protocol approved by the Institutional Review Board at Nationwide Children’s Hospital (IRB17-00206).

: The authors declare no competing interests.

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