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

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

Clinical genetics - 1 Aug 2011

Al-Shammari M, Al-Husain M, Al-Kharfy T, Alkuraya Fowzan S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Diabetes Complications
Share to Infant
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pancreas

Share to Transcription Factors

Source

Identifiers

PMID: 21749365
DOI: 10.1111/j.1399-0004.2010.01613.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.PMID 21749365Read ↗

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.Semantic proximity Read ↗

A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia.Semantic proximity Read ↗

Mutations in PTF1A cause pancreatic and cerebellar agenesis.Semantic proximity Read ↗

Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene.Semantic proximity Read ↗

P02-006 - A novel PSTPIP1 mutation in PAPA syndromeSemantic proximity Read ↗

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.Semantic proximity Read ↗

A novel de novo pathogenic mutation in the CACNA1A gene.Semantic proximity Read ↗

SPINK1 mutation in a pediatric patient with chronic pancreatitis: A case report.Semantic proximity Read ↗

The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.Semantic proximity Read ↗

PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.Semantic proximity Read ↗

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