Article
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
American journal of human genetics - 1 Feb 2018
Martinelli Simone, Krumbach Oliver H F, Pantaleoni Francesca, Coppola Simona, Amin Ehsan, Pannone Luca, Nouri Kazem, Farina Luciapia, Dvorsky Radovan, Lepri Francesca, Buchholzer Marcel, Konopatzki Raphael, Walsh Laurence, Payne Katelyn, Pierpont Mary Ella, Vergano Samantha Schrier, Langley Katherine G, Larsen Douglas, Farwell Kelly D, Tang Sha, Mroske Cameron, Gallotta Ivan, Di Schiavi Elia, Della Monica Matteo, Lugli Licia, Rossi Cesare, Seri Marco, Cocchi Guido, Henderson Lindsay, Baskin Berivan, Alders Mariëlle, Mendoza-Londono Roberto, Dupuis Lucie, Nickerson Deborah A, Chong Jessica X, Meeks Naomi, Brown Kathleen, Causey Tahnee, Cho Megan T, Demuth Stephanie, Digilio Maria Cristina, Gelb Bruce D, Bamshad Michael J, Zenker Martin, Ahmadian Mohammad Reza, Hennekam Raoul C, Tartaglia Marco, Mirzaa Ghayda M
Abstract excerpt
Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase...
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