Article
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
American journal of human genetics - 13 Jan 2012
Mitchell Karen, O'Sullivan James, Missero Caterina, Blair Ed, Richardson Rose, Anderson Beverley, Antonini Dario, Murray Jeffrey C, Shanske Alan L, Schutte Brian C, Romano Rose-Anne, Sinha Satrajit, Bhaskar Sanjeev S, Black Graeme C M, Dixon Jill, Dixon Michael J
Abstract excerpt
Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, early lethality is common, complicating the identification of causative mutations. Using exome sequencing in a...
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