46, XY gonadal dysgenesis: newSRYpoint mutation in two siblings with paternal germ line mosaicism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01832.x/fullpdf
Reference35 articles.
1. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.;Sinclair;Nature,1990
2. Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.;Murphy;J Mol Biol,2001
3. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.;Pivnick;Hum Genet,1992
4. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.;Semerci;Tohoku J Exp Med,2007
5. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer.;Sekido;Nature,2008
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