Further family with autosomal dominant patent ductus arteriosus.

نویسندگان

  • C G Woods
  • L J Sheffield
چکیده

1 Caine ED, Shoulson T. Psychiatric syndrome in Huntington's disease. AmJPsychiatry 1983; 140:728-33. 2 Seeman P, Niznik HB, Guan HC, et al. Link between DI and D2 dopamine receptor is reduced in schizophrenia and Huntington's disease brain. Proc Natl Acad Sci USA 1989; 86:10156-60. 3 MacDonald ME, Ambrose CM, Duyao MP, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-83. 4 Read AP. Huntington's disease: testing the test. Nature Genet 1993;4:329-30. 5 Warner JP, Barron LH, Brock DJH. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-9. 6 Barron LH, Warner JP, Porteous M, et al. A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. JMed Genet 1993;30:1003-7. 7 Spitzer RH, Endicott J, Robins E. Research diagnostic criteria for a selected group of functional disorders. 3rd ed. New York: New York State Psychiatric Institution, Biometrics Res Div, 1987.

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Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

BACKGROUND Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial dysmorphism...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 31 8  شماره 

صفحات  -

تاریخ انتشار 1994