Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis-Reference-Cited by-同舟云学术

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Published:2018-08-08 Issue:12 Volume:26 Page:1752-1758
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van Dijk Tessa,Ferdinandusse Sacha,Ruiter Jos P. N.,Alders Mariëlle,Mathijssen Inge B.,Parboosingh Jillian S.,Innes A. Micheil,Meijers-Heijboer Hanne,Poll-The Bwee Tien,Bernier Francois P.,Wanders Ronald J. A.,Lamont Ryan E.,Baas Frank^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0233-0.pdf

Reference19 articles.

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3. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001;28:345–9.

4. Dusi S, Valletta L, Haack TB, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014;94:11–22.

5. Venco P, Dusi S, Valletta L, Tiranti V. Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes: Table 1. Biochem Soc Trans. 2014;42:1069–74.

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