CareLit · DOI-Nachweis · Aktuelle Neurologie
High frequency of mosaicism among megabase Nf1 deletions
DOI 10.1055/s-2004-833313
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Autor:innenVF Mautner, M Gronowsky, L Kluwe, H Kehrer-Sawatzki
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: neurofibromatosis 1 is an autosomal dominant disorder characterized by tumors of the nerves systems and various cognitive deficits. The cause of neurofibromatosis is the defect of a tumor suppressor gene, NF1, 17q. A small group of the patients have facial anomalies associated with mental retardation and large number of tumors. Deletion of the entire NF1 gene has often been found in this patient group. H…
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Zitierempfehlung
VF Mautner, M Gronowsky, L Kluwe, H Kehrer-Sawatzki (2004) High frequency of mosaicism among megabase Nf1 deletions. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833313
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