Dominant missense mutations in ABCC9 cause Cantú syndrome
Dominant missense mutations in ABCC9 cause Cantú syndrome
About this item
Full title
Author / Creator
Harakalova, Magdalena , van Harssel, Jeske J T , Terhal, Paulien A , van Lieshout, Stef , Duran, Karen , Renkens, Ivo , Amor, David J , Wilson, Louise C , Kirk, Edwin P , Turner, Claire L S , Shears, Debbie , Garcia-Minaur, Sixto , Lees, Melissa M , Ross, Alison , Venselaar, Hanka , Vriend, Gert , Takanari, Hiroki , Rook, Martin B , van der Heyden, Marcel A G , Asselbergs, Folkert W , Breur, Hans M , Swinkels, Marielle E , Scurr, Ingrid J , Smithson, Sarah F , Knoers, Nine V , van der Smagt, Jasper J , Nijman, Isaac J , Kloosterman, Wigard P , van Haelst, Mieke M , van Haaften, Gijs and Cuppen, Edwin
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Edwin Cuppen, Gijs van Haaften and colleagues report the identification of mutations in
ABCC9
in individuals with Cantú syndrome, which is characterized by congenital hypertrichosis, distinctive facial features, cardiomegaly and osteochondrodyplasia.
ABCC9
encodes an ATP-dependent potassium channel.
Cantú syndrome is characterized by...
Alternative Titles
Full title
Dominant missense mutations in ABCC9 cause Cantú syndrome
Authors, Artists and Contributors
Author / Creator
van Harssel, Jeske J T
Terhal, Paulien A
van Lieshout, Stef
Duran, Karen
Renkens, Ivo
Amor, David J
Wilson, Louise C
Kirk, Edwin P
Turner, Claire L S
Shears, Debbie
Garcia-Minaur, Sixto
Lees, Melissa M
Ross, Alison
Venselaar, Hanka
Vriend, Gert
Takanari, Hiroki
Rook, Martin B
van der Heyden, Marcel A G
Asselbergs, Folkert W
Breur, Hans M
Swinkels, Marielle E
Scurr, Ingrid J
Smithson, Sarah F
Knoers, Nine V
van der Smagt, Jasper J
Nijman, Isaac J
Kloosterman, Wigard P
van Haelst, Mieke M
van Haaften, Gijs
Cuppen, Edwin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1125230685
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1125230685
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2324
