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

Abstract 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 Clinic...

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Bibliographic Details
Main Authors: Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1560