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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwann...

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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwann...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4352302

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

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New York: Nature Publishing Group US

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Ludwine Messiaen and colleagues report the identification of constitutional
LZTR1
mutations in individuals with schwannomatosis, an autosomal dominant inherited disorder of multiple schwannomas.
Constitutional
SMARCB1
mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases
1
. We seq...

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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4352302

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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4352302

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ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.2855

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