Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing

OBJECTIVE: To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of c...

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Detalles Bibliográficos
Autores principales: Palma, Jose-Alberto, Yadav, Rachita, Gao, Dadi, Norcliffe-Kaufmann, Lucy, Slaugenhaupt, Susan, Kaufmann, Horacio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054964/
https://www.ncbi.nlm.nih.gov/pubmed/33884296
http://dx.doi.org/10.1212/NXG.0000000000000568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054964/
https://www.ncbi.nlm.nih.gov/pubmed/33884296
http://dx.doi.org/10.1212/NXG.0000000000000568

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