A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03050.x/fullpdf
Reference43 articles.
1. Long-limbed campomelic dwarfism;Austin;Am. J. Dis. Child.,1980
2. Camptomelic dwarfism;Bianchine;Lancet,1971
3. The developmental expression pattern of a new murine homeo box gene: Hox-2.5;Bogarad;Dev. Biol.,1989
4. Organization of human homeobox genes;Boncinelli;Hum. Reprod.,1988
5. Sex-reversed XY females with campomelic dysplasia are HY negative;Bricarelli;Hum. Genet.,1981
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