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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788287/
https://ncbi.nlm.nih.gov/pubmed/33105479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa237
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