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A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 SMA. The patient is an African American male carrying a homozy...

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Detalles Bibliográficos
Autores principales:	Li, Leping, Perera, Lalith, Varghese, Sonia A., Shiloh-Malawsky, Yael, Hunter, Senyene E., Sneddon, Tam P., Powell, Cynthia M., Matera, A. Gregory, Fan, Zheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Cellular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10571918/ https://www.ncbi.nlm.nih.gov/pubmed/37841286 http://dx.doi.org/10.3389/fncel.2023.1259380

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