Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)
- Record Type:
- Journal Article
- Title:
- Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)
- Main Title:
- Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
- Authors:
- Santen, Gijs W.E.
Aten, Emmelien
Vulto‐van Silfhout, Anneke T.
Pottinger, Caroline
van, Bregje W.M.
van, Ivonne J.H.M.
Snowdowne, Ronelle
van der, Christian A.C.
Boogaard, Merel
Linssen, Margot M.L.
Vijfhuizen, Linda
van der, Michiel J.R.
Vollebregt, M.J. (Ellen)
Breuning, Martijn H.
Kriek, Marjolein
van, Arie
den Dunnen, Johan T.
Hoischen, Alexander
Clayton‐Smith, Jill
de, Bert B.A.
Hennekam, Raoul C.M.
van, Martine J.
Almureikhi, Mariam
Baban, Anwar
Barbosa, Mafalda
Ben‐Omran, Tawfeg
Berry, Katherine
Bigoni, Stefania
Boute, Odile
Brueton, Louise
van der, Ineke
Canham, Natalie
Chandler, Kate E.
Chrzanowska, Krystyna
Collins, Amanda L.
de, Teresa
Dean, John
den, Nicolette S.
Flore, Leigh Anne
Fryer, Alan
Gardham, Alice
Graham, John M.
Harrison, Victoria
Horn, Denise
Jongmans, Marjolijn C.
Josifova, Dragana
Kant, Sarina G.
Kapoor, Seema
Kingston, Helen
Kini, Usha
Kleefstra, Tjitske
Krajewska‐Walasek, Małgorzata
Kramer, Nancy
Maas, Saskia M.
Maciel, Patricia
Mancini, Grazia M.S.
Maystadt, Isabelle
McKee, Shane
Milunsky, Jeff M.
Nampoothiri, Sheela
Newbury‐Ecob, Ruth
Nikkel, Sarah M.
Parker, Michael J.
Pérez‐Jurado, Luis A.
Robertson, Stephen P.
Rooryck, Caroline
Shears, Debbie
Silengo, Margherita
Singh, Ankur
Smigiel, Robert
Soares, Gabriela
Splitt, Miranda
Stewart, Helen
Sweeney, Elizabeth
Tassabehji, May
Tuysuz, Beyhan
van, Albertien M.
Vincent‐Delorme, Catherine
Wilson, Louise C.
Yesil, Gozde
… (more) - Abstract:
- <abstract abstract-type="graphical" xml:lang="en" id="humu22394-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This paper describes 63 patients diagnosed with Coffin‐Siris syndrome, identifying a pathogenic variant in 45. We present a genotype‐phenotype correlation and provide some recommendations for the clinical care of CSS patients. We show using EVS data that especially for SMARCA2, SMARCA4 and SMARCE1 it is difficult to discriminate between non‐pathogenic and pathogenic variants without access to parental DNA, and we recommend analysing parental samples. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prnxw" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>
- Is Part Of:
- Human mutation. Volume 34:Issue 11(2013:Nov.)
- Journal:
- Human mutation
- Issue:
- Volume 34:Issue 11(2013:Nov.)
- Issue Display:
- Volume 34, Issue 11 (2013)
- Year:
- 2013
- Volume:
- 34
- Issue:
- 11
- Issue Sort Value:
- 2013-0034-0011-0000
- Page Start:
- 1519
- Page End:
- 1528
- Publication Date:
- 2013-08-30
- Subjects:
- Human chromosome abnormalities -- Periodicals
Mutation (Biology) -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/humu.22394 ↗
- Languages:
- English
- ISSNs:
- 1059-7794
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4336.217000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 4365.xml