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

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

BMC medical genetics - 6 Nov 2017

Liberalesso Paulo Breno Noronha, Cordeiro Mara L, Karuta Simone Carreiro Vieira, Koladicz Karyn Regina Jordão, Nitsche Anderson, Zeigelboim Bianca Simone, Raskin Salmo, Rauchman Michael

Abstract excerpt

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality,...

Read the complete abstract on PubMed

Topics

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

Share to Anal Canal
Share to Anus, Imperforate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Esophagus

Share to Heart Defects, Congenital

Share to Limb Deformities, Congenital

Share to Trachea

Source

Open in PubMed Open full text

Identifiers

PMID: 29110636
DOI: 10.1186/s12881-017-0483-7
PMCID: PMC5674755

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.PMID 29110636Read ↗

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.Semantic proximity Read ↗

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

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

Phenotypic variability in a family with Townes-Brocks syndrome.Semantic proximity Read ↗

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.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 LossSemantic proximity Read ↗

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.Semantic proximity Read ↗

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.Semantic proximity Read ↗

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.Semantic proximity Read ↗

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

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

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