Mendelian etiologies identified with whole exome sequencing in cerebral palsy

OBJECTIVES: Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP. METHODS: We performed comprehensive phenotyp...

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Detalles Bibliográficos
Autores principales: Chopra, Maya, Gable, Dustin L., Love‐Nichols, Jamie, Tsao, Alexa, Rockowitz, Shira, Sliz, Piotr, Barkoudah, Elizabeth, Bastianelli, Lucia, Coulter, David, Davidson, Emily, DeGusmao, Claudio, Fogelman, David, Huth, Kathleen, Marshall, Paige, Nimec, Donna, Sanders, Jessica Solomon, Shore, Benjamin J., Snyder, Brian, Stone, Scellig S. D., Ubeda, Ana, Watkins, Colyn, Berde, Charles, Bolton, Jeffrey, Brownstein, Catherine, Costigan, Michael, Ebrahimi‐Fakhari, Darius, Lai, Abbe, O'Donnell‐Luria, Anne, Paciorkowski, Alex R., Pinto, Anna, Pugh, John, Rodan, Lance, Roe, Eugene, Swanson, Lindsay, Zhang, Bo, Kruer, Michael C., Sahin, Mustafa, Poduri, Annapurna, Srivastava, Siddharth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862420/
https://www.ncbi.nlm.nih.gov/pubmed/35076175
http://dx.doi.org/10.1002/acn3.51506

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