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

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

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

Walter Kerstin N, Greenhalgh K Lynn, Newbury-Ecob Ruth A, Kohlhase Jürgen

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 Anal Canal
Share to Chromosomes, Human, Pair 8
Share to Codon, Nonsense
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Karyotyping

Share to Mosaicism

Share to Trisomy

Source

Identifiers

PMID: 16470706
DOI: 10.1002/ajmg.a.31136

Genes

SALL1

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

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.PMID 16470706Read ↗

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

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.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 ↗

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

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

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

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

A<i>SALL1 </i>mutation causes a branchio-oto-renal syndrome-like phenotype: Figure 1Semantic 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 ↗

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