Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

BMC medical genetics - 3 Apr 2020

Sanchez-Lechuga Begona, Saqlain Muhammad, Ng Nicholas, Colclough Kevin, Woods Conor, Byrne Maria

Abstract excerpt

BACKGROUND: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION: The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were diagnosed at two and a half months old. No hyperglycaemic episodes were recorded in the neonatal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA6 Transcription Factor

Share to Heart Defects, Congenital

Share to Infant

Share to Infant, Newborn

Share to Pancreas

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32245430
DOI: 10.1186/s12881-020-01012-2
PMCID: PMC7118888

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.PMID 32245430Read ↗

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.Semantic proximity Read ↗

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.Semantic proximity Read ↗

Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.Semantic proximity Read ↗

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.Semantic proximity Read ↗

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitusSemantic proximity Read ↗

The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.Semantic proximity Read ↗

Clinical traits and molecular genetics analysis of monogenic diabetes caused by mutations in the GATA6Semantic proximity Read ↗

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.Semantic proximity Read ↗

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.Semantic proximity Read ↗

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.Semantic proximity Read ↗

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis.Semantic proximity Read ↗

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.