An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Open Access
- 10 September 2008
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 17 (1), 125-128
- https://doi.org/10.1038/ejhg.2008.159
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeNature Genetics, 2005
- Etiology of Mental Retardation in Children Referred to a Tertiary Care Center: A Prospective StudyAmerican Journal on Mental Retardation, 2005
- CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindredsHuman Genetics, 2004
- Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide ArrayGenome Research, 2004
- Large-scale genotyping of complex DNANature Biotechnology, 2003
- The epidemiology of mental retardation: Challenges and opportunities in the new millenniumMental Retardation and Developmental Disabilities Research Reviews, 2002
- Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangiomaGenes, Chromosomes and Cancer, 2001
- β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12Nature Genetics, 1995
- Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.Proceedings of the National Academy of Sciences of the United States of America, 1991
- Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.Journal of Medical Genetics, 1988