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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773220/
https://www.ncbi.nlm.nih.gov/pubmed/31045292
http://dx.doi.org/10.1002/humu.23776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773220/
https://www.ncbi.nlm.nih.gov/pubmed/31045292
http://dx.doi.org/10.1002/humu.23776

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