A comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7-21.1
Article Abstract:
Identification of a new microdeletion syndrome of chromosome band 7-21.1 by use of a comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis is discussed. A significant fraction of the cases of Saethre-Chotzen syndrome are the result of the microdeletion, and it seems that haploinsufficiency of genes close to TWIST (ital) contributes to developmental problems.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesian
Article Abstract:
The origins of the autosomal gene pool of Polynesians are analyzed on a genome-wide scale and the results are compared with Chinese and Papua New Guinea individuals. Dual origin of Polynesians with a high East Asian and considerable Melanesian component reflects sex-biased admixture in Polynesian history.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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