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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Pubblicato in:Hum Mol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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General Article
Accesso online: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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