17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identified, the molecular basis and pathogenesis of most S...

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Detaylı Bibliyografya
Asıl Yazarlar: Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2011
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3198152/
https://ncbi.nlm.nih.gov/pubmed/21629300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.97
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