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Hulsebos TJM, Kenter SB, Jakobs ME, Baas F, Chong B and Delatycki MB. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
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...