Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Microcephalic primordial dwarfism (MPD) is a group of rare single‐gene disorders characterized by the extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD‐associated genes play important roles in fundamental cellular processes, notably genome replication a...

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Pubblicato in:Hum Mutat
Autori principali: Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., de Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Brief Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6773220/
https://ncbi.nlm.nih.gov/pubmed/31045292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23776
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