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

Genes - 19 Jan 2023

Innoceta Anna Maria, Olivucci Giulia, Parmeggiani Giulia, Scarano Emanuela, Pragliola Antonella, Graziano Claudio

Abstract excerpt

SALL1 heterozygous pathogenic variants cause Townes-Brocks syndrome (TBS), a condition with variable clinical presentation. The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns are hearing impairments, foot malformations, and renal and heart defects. Most of the pathogenic SALL1 variants are nonsense and frameshift, likely escaping...

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Share to Abnormalities, Multiple
Share to Anus, Imperforate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Share to Hearing Loss, Sensorineural

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Source

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Identifiers

PMID: 36833185
DOI: 10.3390/genes14020258
PMCID: PMC9956891

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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