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KBG syndrome: An Australian experience

Murray, N; Burgess, B; Hay, R; Colley, A; Rajagopalan, S; McGaughran, J; Patel, C; Enriquez, A; Goodwin, L; Stark, Z; Tan, T; Wilson, M; Roscioli, T; Tekin, M; Goel, H

Goel, H (reprint author), Hunter Genet, POB 84, Waratah, NSW 2298, Australia.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017; 173 (7): 1866

Abstract

In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the ......

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