Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and sex-matched populations. MCPH is associated wi...

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Detalles Bibliográficos
Autores principales: Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280259/
https://www.ncbi.nlm.nih.gov/pubmed/32549991
http://dx.doi.org/10.1038/s41439-020-0105-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280259/
https://www.ncbi.nlm.nih.gov/pubmed/32549991
http://dx.doi.org/10.1038/s41439-020-0105-3

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