A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal re...
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
About this item
Full title
Author / Creator
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Intellectual disability (ID) is a feature of many rare diseases caused by thousands of genes. This genetic heterogeneity implies that pathogenic variants in a specific gene are found only in a small number of patients, and difficulties arise in the definition of prevailing genotype and characteristic phenotype associated with that gen...
Alternative Titles
Full title
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7e30fc8634c847a9b914fed3c97b4fba
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7e30fc8634c847a9b914fed3c97b4fba
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.865
