An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4-Reference-Cited by-同舟云学术

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Published:2008-09-10 Issue:1 Volume:17 Page:125-128
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kahrizi Kimia,Najmabadi Hossein,Kariminejad Roxana,Jamali Payman,Malekpour Mahdi,Garshasbi Masoud,Ropers Hans Hilger,Kuss Andreas Walter,Tzschach Andreas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008159.pdf

Reference14 articles.

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2. van Karnebeek CD, Scheper FY, Abeling NG et al: Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 2005; 110: 253–267.

3. Najmabadi H, Motazacker MM, Garshasbi M et al: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet 2007; 121: 43–48.

4. Kennedy GC, Matsuzaki H, Dong S et al: Large-scale genotyping of complex DNA. Nat Biotechnol 2003; 21: 1233–1237.

5. Matsuzaki H, Loi H, Dong S et al: Parallel genotyping of over 10 000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 2004; 14: 414–425.

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