NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.

doi:10.1136/jmg-2024-110065

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Article

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.

Journal of medical genetics - 29 Aug 2024

Forde Claire, Smith Miriam J, Burghel George J, Bowers Naomi, Roberts Nicola, Lavin Tim, Halliday Jane, King Andrew Thomas, Rutherford Scott, Pathmanaban Omar N, Lloyd Simon, Freeman Simon, Halliday Dorothy, Parry Allyson, Axon Patrick, Buttimore Juliette, Afridi Shazia, Obholzer Rupert, Laitt Roger, Thomas Owen, Stivaros Stavros Michael, Vassallo Grace, Evans D Gareth

Abstract excerpt

OBJECTIVES: New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de novo and familial NF2 cases was also assessed. METHODS: The UK National NF2 database identifies patients...

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PMID: 38925914
DOI: 10.1136/jmg-2024-110065

Genes

NF2
LZTR1
SMARCB1

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