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Article

CMMRD caused by PMS1 mutation in a sudanese consanguineous family

15 Apr 2022

Abstract excerpt

A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.

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Identifiers

PMID: 35428304
DOI: 10.1186/s13053-022-00222-4

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