Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
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Author / Creator
Latham, Sharissa L. , Ehmke, Nadja , Reinke, Patrick Y. A. , Taft, Manuel H. , Eicke, Dorothee , Reindl, Theresia , Stenzel, Werner , Lyons, Michael J. , Friez, Michael J. , Lee, Jennifer A. , Hecker, Ramona , Frühwald, Michael C. , Becker, Kerstin , Neuhann, Teresa M. , Horn, Denise , Schrock, Evelin , Niehaus, Indra , Sarnow, Katharina , Grützmann, Konrad , Gawehn, Luzie , Klink, Barbara , Rump, Andreas , Chaponnier, Christine , Figueiredo, Constanca , Knöfler, Ralf , Manstein, Dietmar J. and Di Donato, Nataliya
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Germline mutations in the ubiquitously expressed
ACTB
, which encodes β-cytoplasmic actin (CYA), are almost exclusively associated with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF). Here, we report six patients with previously undescribed heterozygous variants clustered in the 3′-coding region of
ACTB
. Patients present with cl...
Alternative Titles
Full title
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Authors, Artists and Contributors
Author / Creator
Ehmke, Nadja
Reinke, Patrick Y. A.
Taft, Manuel H.
Eicke, Dorothee
Reindl, Theresia
Stenzel, Werner
Lyons, Michael J.
Friez, Michael J.
Lee, Jennifer A.
Hecker, Ramona
Frühwald, Michael C.
Becker, Kerstin
Neuhann, Teresa M.
Horn, Denise
Schrock, Evelin
Niehaus, Indra
Sarnow, Katharina
Grützmann, Konrad
Gawehn, Luzie
Klink, Barbara
Rump, Andreas
Chaponnier, Christine
Figueiredo, Constanca
Knöfler, Ralf
Manstein, Dietmar J.
Di Donato, Nataliya
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_569cb18d81a94fddbe69e1080068e13d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_569cb18d81a94fddbe69e1080068e13d
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-06713-0
