Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (whi...

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Main Authors:	Bem, D, Yoshimura, S, Nunes-Bastos, R, Bond, F, Kurian, M, Rahman, F, Handley, M, Hadzhiev, Y, Masood, I, Straatman-Iwanowska, A, Cullinane, A, McNeill, A, Pasha, S, Kirby, G, Foster, K, Ahmed, Z, Morton, J, Williams, D, Graham, J, Dobyns, W, Burglen, L, Ainsworth, JR, Gissen, P, Müller, F, Maher, E
Format:	Journal article
Language:	English
Published:	2011

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

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