New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic v...

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Detalles Bibliográficos
Autores principales: Abad-Morales, Víctor, Wert, Ana, Ruiz Gómez, María Ángeles, Navarro, Rafael, Pomares, Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956282/
https://www.ncbi.nlm.nih.gov/pubmed/33668384
http://dx.doi.org/10.3390/ijms22052262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956282/
https://www.ncbi.nlm.nih.gov/pubmed/33668384
http://dx.doi.org/10.3390/ijms22052262

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