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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Vydáno v:Hum Mutat
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Brief Reports
On-line přístup: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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