Article
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Human molecular genetics - 15 Mar 2009
Asai-Coakwell Mika, French Curtis R, Ye Ming, Garcha Kamal, Bigot Karin, Perera Anoja G, Staehling-Hampton Karen, Mema Silvina C, Chanda Bhaskar, Mushegian Arcady, Bamforth Steven, Doschak Michael R, Li Guang, Dobbs Matthew B, Giampietro Philip F, Brooks Brian P, Vijayalakshmi Perumalsamy, Sauvé Yves, Abitbol Marc, Sundaresan Periasamy, van Heyningen Veronica, Pourquié Olivier, Underhill T Michael, Waskiewicz Andrew J, Lehmann Ordan J
Abstract excerpt
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seve...
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