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Article

LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.

Molecular genetics & genomic medicine - 1 Jan 2021

Muthusamy Karthik, Mrugala Maciej M, Bendok Bernard R, Dhamija Radhika

Abstract excerpt

BACKGROUND: Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes. A combination of meticulous phenotyping and molecular genetic techniques are essential in solving these diagnostic odysseys. METHODS: Clinical features and genetic workup of a patient presenting with incidental schwannomatosis. RESULTS: A 19-year-old male...

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Identifiers

PMID: 33269527
DOI: 10.1002/mgg3.1560
PMCID: PMC7963420

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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