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De Barsy syndrome and ATP6V0A2-CDG.

作者信息

Leao-Teles Elisa, Quelhas Dulce, Vilarinho Laura, Jaeken Jaak

出版信息

Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16.

Abstract
摘要

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CDG nomenclature: time for a change!
Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005.
2
Mutations in PYCR1 cause cutis laxa with progeroid features.
Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.
3
Autosomal recessive cutis laxa syndrome revisited.
Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29.
4
On the nomenclature of congenital disorders of glycosylation (CDG).
J Inherit Metab Dis. 2008 Dec;31(6):669-72. doi: 10.1007/s10545-008-0983-x. Epub 2008 Oct 24.
5
De Barsy syndrome: a review of the phenotype.
Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964.
6
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23.

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