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

Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).

Journal of pediatric gastroenterology and nutrition - 1 Sept 1997

Guzman C, Carranza A

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 Exocrine Pancreatic Insufficiency
Share to Facial Bones
Share to Infant, Newborn
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pancreas

Share to Syndrome

Source

Identifiers

PMID: 9285390
DOI: 10.1097/00005176-199709000-00020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).PMID 9285390Read ↗

Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.Semantic proximity Read ↗

A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.Semantic proximity Read ↗

Pathophysiologic basis of exocrine pancreatic dysfunction in childhood.Semantic proximity Read ↗

[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].Semantic proximity Read ↗

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.Semantic proximity Read ↗

Exocrine pancreatic insufficiency: a new recessive mutation in mice.Semantic proximity Read ↗

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.Semantic proximity Read ↗

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).Semantic proximity Read ↗

Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction.Semantic proximity Read ↗

Familial biliary atresia in three siblings including twinsSemantic proximity Read ↗

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.Semantic proximity Read ↗

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.Semantic proximity Read ↗

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