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

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

26 Jan 2019

Abstract excerpt

OBJECTIVE: When diabetes is associated with congenital malformations, without autoimmune antibodies, a genetic cause is suspected. Here, we aimed to identify a defective gene that led to diabetes. RESEARCH DESIGN AND METHODS: We performed an exome analysis of an index case and his healthy parents. RESULTS: The child presented with childhood-onset diabetes, congenital hypopituitarism, cardiac malformation, and...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to FOXO transcription factor regulation
Share to Pancreatic function and diabetes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30684292
DOI: 10.1111/pedi.12814

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetesPMID 30684292Read ↗

Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.Semantic proximity Read ↗

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.Semantic proximity Read ↗

Whole exome sequencing in children with rare endocrine disordersSemantic proximity Read ↗

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

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of<i>FOXA2</i>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 ↗

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.Semantic proximity Read ↗

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant.Semantic proximity Read ↗

A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotoniaSemantic proximity Read ↗

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

Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous familySemantic proximity Read ↗

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.Semantic proximity Read ↗

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