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Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome

Abstract:

Variants affecting the function of different subunits of the BAF chromatin remodelling complex lead to various neurodevelopmental syndromes including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental delay disorders. Here we report 8 heterozygous de novo variants, 1 frameshift, 2 splice site and 5 missense, in the gene encoding the BAF complex...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1016/j.ajhg.2018.01.014

Authors


Vasileiou, G More by this author
Vergarajauregui, S More by this author
Büttner, C More by this author
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Funding agency for:
Wilkie, AOM
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Grant:
01GM1520A (AR), 01GM1520B (NB), 01GM1520D (TS) and 01GM1520E (DW)
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Grant:
INST 410/91-1 FUGG to F.B.E
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Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
102
Issue:
3
Pages:
468-479
Publication date:
2018-02-08
Acceptance date:
2018-01-17
DOI:
ISSN:
0002-9297
Pubs id:
pubs:820613
URN:
uri:fa6f808e-e7d1-48e4-a62a-f6c7526d4553
UUID:
uuid:fa6f808e-e7d1-48e4-a62a-f6c7526d4553
Local pid:
pubs:820613

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