Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder-Reference-Cited by-同舟云学术

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Published:2017-06-07 Issue:8 Volume:25 Page:1011-1014
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ghoumid Jamal,Petit Florence,Boute-Benejean Odile,Frenois Frédéric,Cartigny Maryse,Vanlerberghe Clémence,Smol Thomas,Caumes Roseline,de ROUX Nicolas,Manouvrier-Hanu Sylvie

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201773.pdf

Reference14 articles.

1. Stoll C, Talon P, Alembik Y, Levy JM : Congenital cerebellar hypoplasia with bone lesions. Ann Pediatr 1986; 33: 417–421.

2. Charrow J, Poznanski AK, Unger FM, Robinow M : Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. Am J Med Genet 1991; 41: 464–468.

3. Ozgen HM, Overweg-Plandsoen WC, Blees-Pelk J, Besselaar PP, Hennekam RC : Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. Am J Med Genet A 2005; 134A: 215–219.

4. Wolf NI, Vanderver A, van Spaendonk RM et al: Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014; 83: 1898–1905.

5. Thiffault I, Wolf NI, Forget D et al: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun 2015; 6: 7623.

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