Cargando…
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of...
Autores principales: | Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225825/ https://www.ncbi.nlm.nih.gov/pubmed/24228726 http://dx.doi.org/10.1186/1750-1172-8-178 |
Ejemplares similares
-
Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly
por: Ravindran, Ethiraj, et al.
Publicado: (2023) -
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
por: Kousar, Rizwana, et al.
Publicado: (2011) -
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly
por: Sgourdou, Paraskevi, et al.
Publicado: (2017) -
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
por: Ravindran, Ethiraj, et al.
Publicado: (2022) -
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
por: Yu, Timothy W., et al.
Publicado: (2010)