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

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

Human mutation - 1 Feb 2006

Borozdin Wiktor, Steinmann Katharina, Albrecht Beate, Bottani Armand, Devriendt Koenraad, Leipoldt Michael, Kohlhase Jürgen

Abstract excerpt

Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited disorder characterized by ear, anal, limb, and renal malformations, and results from mutations in the gene SALL1. All SALL1 mutations previously found in TBS patients create preterminal termination codons. In accordance with the fi...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Codon
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genes, Dominant

Share to Homozygote

Share to Point Mutation

Share to Syndrome

Source

Identifiers

PMID: 16429401
DOI: 10.1002/humu.9396

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16429401-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.PMID 16429401Read ↗

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.Semantic proximity Read ↗

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.Semantic proximity Read ↗

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.Semantic proximity Read ↗

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.Semantic proximity Read ↗

SALL1 mutations in Townes-Brocks syndrome and related disorders.Semantic proximity Read ↗

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.Semantic proximity Read ↗

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.Semantic proximity Read ↗

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.Semantic proximity Read ↗

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.Semantic proximity Read ↗

Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2.Semantic proximity Read ↗

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.Semantic proximity Read ↗

Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.Semantic proximity Read ↗

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