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Article

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2.

Human genetics - 1 Jul 1997

Kehrer-Sawatzki H, Udart M, Krone W, Baden R, Fahsold R, Thomas G, Schmucker B, Assum G

Abstract excerpt

The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46, XX, r(22)/45,XX,-22. A constitutional G to A transition in the proximal 3' untranslated region of isoforms 1 and 2 was identified in the patient's NF2...

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PMID: 9225971
DOI: 10.1007/s004390050467

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