(Q55670535)

English

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

article published in 1997

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title

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome (English)

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main subject

Pallister-Hall syndrome

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S Kang

1

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J M Graham

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2

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A H Olney

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3

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L G Biesecker

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4

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language of work or name

English

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publication date

March 1997

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published in

Nature Genetics

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volume

15

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issue

3

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page(s)

266-8

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exact match

https://scigraph.springernature.com/pub.10.1038/ng0397-266

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cites work

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity

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reference URL

https://api.crossref.org/works/10.1038%2FNG0397-266

retrieved

21 January 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

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https://api.crossref.org/works/10.1038%2FNG0397-266

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21 January 2018

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

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7 January 2021

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Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations

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7 January 2021

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Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

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7 January 2021

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Pallister-Hall syndrome

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7 January 2021

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Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome

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7 January 2021

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Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?

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7 January 2021

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Autosomal dominant transmission of the Pallister-Hall syndrome

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7 January 2021

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Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands

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7 January 2021

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

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7 January 2021

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The acrocallosal syndrome and Greig syndrome are not allelic disorders

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7 January 2021

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Report from the workshop on Pallister-Hall syndrome and related phenotypes

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7 January 2021

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Amplification of sequences from affected individuals.

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7 January 2021

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Identifiers

DOI

10.1038/NG0397-266

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Dimensions Publication ID

1003779013

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PubMed publication ID

9054938

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ResearchGate publication ID

14156425

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(Q55670535)

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

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