Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency. Issue 1 (8th November 2013)
- Record Type:
- Journal Article
- Title:
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency. Issue 1 (8th November 2013)
- Main Title:
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
- Authors:
- Murray, Jennie E.
Bicknell, Louise S.
Yigit, Gökhan
Duker, Angela L.
van, Margriet
Haghayegh, Sara
Wieczorek, Dagmar
Kayserili, Hülya
Albert, Michael H.
Wise, Carol A.
Brandon, January
Kleefstra, Tjitske
Warris, Adilia
van der, Michiel
Bamforth, J. Steven
Doonanco, Kurston
Adès, Lesley
Ma, Alan
Field, Michael
Johnson, Diana
Shackley, Fiona
Firth, Helen
Woods, C. Geoffrey
Nürnberg, Peter
Gatti, Richard A.
Hurles, Matthew
Bober, Michael B.
Wollnik, Bernd
Jackson, Andrew P. - Abstract:
- <abstract abstract-type="graphical" xml:lang="en" id="humu22461-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Ligase IV syndrome, a rare disorder of DNA damage repair, is associated with severe immunodeficiency, malignancy predisposition, and microcephaly. Here, we report that mutations in LIG4 also occur in patients presenting with extreme growth failure, extending the phenotypic spectrum of Ligase IV deficiency. A correlation between degree of protein truncation and disease severity is observed, with a recurrent mutation presenting in conjunction with a more severely truncating mutation conferring profound growth impairment with progressive bone marrow failure and immunodeficiency. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3zsp6n1d" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>
- Is Part Of:
- Human mutation. Volume 35:Issue 1(2014:Jan.)
- Journal:
- Human mutation
- Issue:
- Volume 35:Issue 1(2014:Jan.)
- Issue Display:
- Volume 35, Issue 1 (2014)
- Year:
- 2014
- Volume:
- 35
- Issue:
- 1
- Issue Sort Value:
- 2014-0035-0001-0000
- Page Start:
- 76
- Page End:
- 85
- Publication Date:
- 2013-11-08
- 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.22461 ↗
- 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:
- 3646.xml