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LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
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 feat...
Autores principales: | Muthusamy, Karthik, Mrugala, Maciej M., Bendok, Bernard R., Dhamija, Radhika |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963420/ https://www.ncbi.nlm.nih.gov/pubmed/33269527 http://dx.doi.org/10.1002/mgg3.1560 |
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