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Article

Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2.

Cytogenetics and cell genetics - 1 Jan 1999

Kohlhase J, Köhler A, Jäckle H, Engel W, Stick R

Abstract excerpt

SALL1 and SALL2 have been identified as two human homologs of the region-specific homeotic gene spalt (sal) of Drosophila, which encodes a zinc finger protein of characteristic structure. SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No. 107480). H...

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Topics

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Share to Abnormalities, Multiple
Share to Genes, Homeobox
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

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Share to Sequence Homology, Nucleic Acid

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Source

Identifiers

PMID: 10343095
DOI: 10.1159/000015206

Genes

SALL1
SALL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10343095-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2.PMID 10343095Read ↗

Mutations in the SALL1 putative transcription factor gene cause 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 ↗

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

Defining the heterochromatin localization and repression domains of SALL1.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 ↗

Regulation and function of Spalt proteins during animal developmentSemantic proximity Read ↗

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

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

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

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

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