The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
The hepatocyte nuclear factor 1β (HNF1B) gene is involved in the development of specialized epithelia of several organs during the early and late phases of embryogenesis, performing its function mainly by regulating the cell cycle and apoptosis pathways. The first pathogenic variant of HNF1B (namely, R177X) was reported in 1997 and is associated wi...
Alternative Titles
Full title
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6fd49b3961d64082ae77f817d86a053e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6fd49b3961d64082ae77f817d86a053e
Other Identifiers
ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells12020307
