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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Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2011
Gaiak:
Article
Sarrera elektronikoa: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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