Article
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
Clinical genetics - 1 Jan 2010
Hulsebos T J M, Kenter S B, Jakobs M E, Baas F, Chong B, Delatycki M B
Abstract excerpt
Schwannomatosis is characterized by the development of multiple schwannomas of the nervous system, but without the occurrence of vestibular schwannomas. Most cases of schwannomatosis are thought to be sporadic, representing the first case in a family due to a new mutation in the causative gene. W...
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