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...

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Detalles Bibliográficos
Autores principales: Muthusamy, Karthik, Mrugala, Maciej M., Bendok, Bernard R., Dhamija, Radhika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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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