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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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2011
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Article
Online Zugang: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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