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Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Anal...

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Anal...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10881634

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits

About this item

Full title

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits

Publisher

New York: Springer US

Journal title

Molecular biotechnology, 2024-03, Vol.66 (3), p.467-474

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

Monogenic diabetes caused by GATA6 mutations were almost described as neonatal diabetes, and the phenotypic spectrum has expanded since then. Our study underscores the broad phenotypic spectrum by reporting a de novo GATA6 mutation in a family. Furthermore, we reviewed related literature to summarize the clinical and genetic characteristics of mono...

Alternative Titles

Full title

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10881634

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10881634

Other Identifiers

ISSN

1073-6085

E-ISSN

1559-0305

DOI

10.1007/s12033-023-00761-8

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