Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation-Reference-Cited by-同舟云学术

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

Published:2005-02-23 Issue:5 Volume:13 Page:541-546
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Geneviève David,Héron Delphine,El Ghouzzi Vincent,Prost-Squarcioni Catherine,Le Merrer Martine,Jacquette Aurélia,Sanlaville Damien,Pinton Florence,Villeneuve Nathalie,Kalifa Gabriel,Munnich Arnold,Cormier-Daire Valérie

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201339.pdf

Reference15 articles.

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4. Zhang P, McGrath B, Li S et al: The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas. Mol Cell Biol 2002; 22: 3864–3874.

5. Dyggve HV, Melchior JC, Clausen J : Morquio–Ullrich's disease: an inborn error of metabolism? Arch Dis Child 1962; 37: 525–534.

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