Article
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Scientific reports - 14 Nov 2017
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha K M, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton P T, Guo L, Hofmeister W, Pettersson M, Chagin A S, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S
Abstract excerpt
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report...
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