UNIGE document Scientific Article
previous document  unige:9032  next document
add to browser collection
Title

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

Authors
Sertie, A. L.
Quimby, M.
Moreira, E. S.
Murray, J.
Zatz, M.
Passos-Bueno, M. R.
Published in Human Molecular Genetics. 1996, vol. 5, no. 6, p. 843-847
Abstract Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.
Keywords Abnormalities, Multiple/ geneticsChromosome MappingChromosomes, Human, Pair 21Encephalocele/geneticsFemaleHaplotypesHumansLinkage (Genetics)MaleOccipital Bone/abnormalitiesPedigreeRetinal Diseases/geneticsSyndrome
Identifiers
PMID: 8776601
Full text
Article - document accessible for UNIGE members only Limited access to UNIGE
Other version: http://hmg.oxfordjournals.org/cgi/reprint/5/6/843.pdf
Structures
Citation
(ISO format)
SERTIE, A. L. et al. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. In: Human Molecular Genetics, 1996, vol. 5, n° 6, p. 843-847. doi: 10.1093/hmg/5.6.843 https://archive-ouverte.unige.ch/unige:9032

359 hits

0 download

Update

Deposited on : 2010-07-12

Export document
Format :
Citation style :