(Q34570066)

3 August 2017

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title

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). (English)

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3 August 2017

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3 August 2017

Gillian Turner

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3 August 2017

John Nelson

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3 August 2017

Michael Partington

series ordinal

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3 August 2017

language of work or name

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16 August 2006

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European Journal of Human Genetics

3 August 2017

published in

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

1233-1237

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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

The nucleolus: an old factory with unexpected capabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

The nucleolus: the magician's hat for cell cycle tricks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

The PHD finger: implications for chromatin-mediated transcriptional regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201639

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201639

1 reference

Dimensions Publication ID

3 August 2017

1027569640

0 references

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