Cargando…
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
OBJECTIVE: Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with decreased head circumference due to the abnormality in fetal brain growth. To date, nine loci and nine genes responsible for the situation have been identified. Mutations in...
Autores principales: | AKBARIAZAR, Elinaz, EBRAHIMPOUR, Mohammad, AKBARI, Saeedeh, ARZHANGHI, Sanaz, ABEDINI, Seydeh Sedigheh, NAJMABADI, Hossein, KAHRIZI, Kimia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943041/ https://www.ncbi.nlm.nih.gov/pubmed/24665293 |
Ejemplares similares
-
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
por: Hashmi, Jamil A., et al.
Publicado: (2016) -
Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
por: Khan, Niaz Muhammad, et al.
Publicado: (2021) -
A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
por: Abdi Rad, Isa, et al.
Publicado: (2020) -
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive
por: Bhargav, Desaraju Suresh, et al.
Publicado: (2017) -
The molecular landscape of ASPM mutations in primary microcephaly
por: Nicholas, A K, et al.
Publicado: (2009)