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

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.

Orphanet journal of rare diseases - 29 Aug 2023

Wang Zhendong, Sun Zhenfu, Diao Yujie, Wang Zhouyang, Yang Xiangdong, Jiang Bei, Wu Yumei, Liu Guangyi

Abstract excerpt

BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can facilitate diagnosis of Townes-Brocks syndrome. METHODS: We collected clinical data and blood samples of the two...

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 Anus, Imperforate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Arthrogryposis

Share to East Asian People

Share to Hearing Loss, Sensorineural

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37644569
DOI: 10.1186/s13023-023-02874-4
PMCID: PMC10466882

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.PMID 37644569Read ↗

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --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 ↗

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 ↗

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

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.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 ↗

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

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

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

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.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 ↗

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

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