Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulceratio...

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Detalles Bibliográficos
Autores principales: Wakil, Salma M., Monies, Dorota, Hagos, Samya, Al-Ajlan, Fahad, Finsterer, Josef, Al Qahtani, Aisha, Ramzan, Khushnooda, Al Humaidy, Rawan, Al-Muhaizea, Mohamed A., Meyer, Brian, Bohlega, Saeed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311306/
https://www.ncbi.nlm.nih.gov/pubmed/30643655
http://dx.doi.org/10.1155/2018/9468049

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