NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. Microcephaly, progressive cortical atrophy, cereb...

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Detalles Bibliográficos
Autores principales: Nistala, Harikiran, Dronzek, John, Gonzaga-Jauregui, Claudia, Chim, Shek Man, Rajamani, Saathyaki, Nuwayhid, Samer, Delgado, Dennis, Burke, Elizabeth, Karaca, Ender, Franklin, Matthew C, Sarangapani, Prasad, Podgorski, Michael, Tang, Yajun, Dominguez, Melissa G, Withers, Marjorie, Deckelbaum, Ron A, Scheonherr, Christopher J, Gahl, William A, Malicdan, May C, Zambrowicz, Brian, Gale, Nicholas W, Gibbs, Richard A, Chung, Wendy K, Lupski, James R, Economides, Aris N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788287/
https://www.ncbi.nlm.nih.gov/pubmed/33105479
http://dx.doi.org/10.1093/hmg/ddaa237

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