Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

Asai-Coakwell, Mika; R. French, Curtis; Ye, M.; Garcha, Kamal; Bigot, Karine; Perera, Anoja; Staehling‐Hampton, Karen; C. Mema, Silvina; Chanda, B.; Mushegian, Arcady; Bamforth, Steven; R. Doschak, Michael; Li, Guang; B. Dobbs, Matthew; F. Giampietro, Philip; P. Brooks, Brian; Vijayalakshmi, P; Sauvé, Yves; Abitbol, Marc; Sundaresan, Periasamy; van Heyningen, Veronica; Pourquié, Olivier; Michael Underhill, T.; J. Waskiewicz, Andrew; J. Lehmann, Ordan

doi:10.1093/hmg/ddp008

Public

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

Published in Human Molecular Genetics • Jan 6, 2009

Authors:

Mika Asai-Coakwell

Curtis R. French

M. Ye

Abstract

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 seven h...

Subject

Penetrance

Biology

Phenotype

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