Total: 1 |
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PMID (PMCID) | ||
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11129337 |
MIXED_SAMPLE | Child |
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. | ||
Sestini R, Vivarelli R, Balestri P, Ammannati F, Montali E, Papi L. Hum Genet. 2000;107(4):366-71. |
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Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome that predisposes to the development of bilateral vestibular schwannomas sometimes associated with schwannomas at other locations, meningiomas, ependymomas and juvenile posterior subcapsular lenticular opacities. |