Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature (Q24314493)

Spalt like transcription factor 1

Europe PubMed Central

title

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature (English)

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main subject

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embryonic digestive tract development

GOA release 2020-03-11

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single-nucleotide polymorphism

GOA release 2020-03-11

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Journal of Pediatric Surgery

inferred from title

Townes-Brocks syndrome

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Ying Liang

1

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Dihua Shen

series ordinal

2

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Wei Cai

series ordinal

3

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language of work or name

English

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publication date

February 2008

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published in

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volume

43

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issue

2

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page(s)

391-3

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cites work

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Townes-Brocks syndrome in two mentally retarded youngsters.

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Defining the heterochromatin localization and repression domains of SALL1

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

SNP discovery in associating genetic variation with human disease phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

The Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case

1 reference

https://api.crossref.org/works/10.1016%2FJ.JPEDSURG.2007.09.079

7 January 2021