CMMRD caused by PMS1 mutation in a sudanese consanguineous family
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
About this item
Full title
Author / Creator
Publisher
Poland: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Poland: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 h
PMS1
the first to be reported in association to a CMMRD phenotype.
Alternative Titles
Full title
CMMRD caused by PMS1 mutation in a sudanese consanguineous family
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ec40b3d850814185900404411f163b79
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ec40b3d850814185900404411f163b79
Other Identifiers
ISSN
1897-4287,1731-2302
E-ISSN
1897-4287
DOI
10.1186/s13053-022-00222-4
