Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleCMMRD caused by PMS1 mutation in a sudanese consanguineous family.AuthorsHamad, Reem S.; Ibrahim, Muntaser E.AbstractA 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.SubjectsFRAMESHIFT mutation; SUDANESE; CHILDHOOD cancer; FAMILIES; DNA sequencing; RECESSIVE genesPublicationHereditary Cancer in Clinical Practice, 2022, Vol 20, Issue 1, p1ISSN1731-2302Publication typeArticleDOI10.1186/s13053-022-00222-4