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

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

American journal of medical genetics. Part A - 15 Apr 2006

Zweier Christiane, Horn Denise, Kraus Cornelia, Rauch Anita

Abstract excerpt

Mowat-Wilson syndrome is a recently delineated severe mental retardation, multiple congenital anomalies syndrome caused by dominant nonsense or frameshift mutations, deletions or translocations of the zinc finger homeobox 1B gene (ZFHX1B). We report on a patient with exceptional mild phenotype caused by a novel and unusual splice mutation in the 5'UTR. The aberrant transcript leads to usage of an alternative...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Abnormalities, Multiple

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

Share to Acylation

Share to Homeodomain Proteins

Share to Intellectual Disability

Share to RNA Splice Sites

Share to Syndrome

Share to Zinc Finger E-box Binding Homeobox 2

Source

Identifiers

PMID: 16532472
DOI: 10.1002/ajmg.a.31196

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

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.PMID 16532472Read ↗

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.Semantic proximity Read ↗

Clinical and mutational spectrum of Mowat-Wilson syndrome.Semantic proximity Read ↗

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

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).Semantic proximity Read ↗

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.Semantic proximity Read ↗

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.Semantic proximity Read ↗

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

Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.Semantic proximity Read ↗

Mowat-Wilson syndrome.Semantic proximity Read ↗

Mowat-Wilson syndrome.Semantic proximity Read ↗

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.Semantic proximity Read ↗

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).Semantic proximity Read ↗

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