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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Brief Reports
Mynediad Ar-lein: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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