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

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

1 Dec 2001

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 Congenital gastrointestinal and neural anomalies
Share to Congenital heart defects research
Share to Fetal and Pediatric Neurological Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11592033
DOI: 10.1086/324343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical FeaturesPMID 11592033Read ↗

ZFHX1B mutations in patients with Mowat-Wilson syndrome.Semantic proximity Read ↗

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity Read ↗

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1Semantic proximity Read ↗

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular InteractionsSemantic proximity Read ↗

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in Split Hand/Foot MalformationSemantic proximity Read ↗

Heterozygous HMGB1 variants and neurodevelopmental disorder: phenotypic and allelic spectrumSemantic proximity Read ↗

SPLIT HAND/FOOT VARIANTS FAIL TO RESCUE PRDM1A MUTANT CRANIOFACIAL DEFECTSSemantic proximity Read ↗

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.Semantic proximity Read ↗

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A ReviewSemantic proximity Read ↗

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.Semantic proximity Read ↗

[Function of zfhx1 family and molecular genetic analysis of its deficiency].Semantic proximity Read ↗

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat‐Wilson syndromeSemantic proximity Read ↗

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