Cargando…
LINS, a modulator of the WNT signaling pathway, is involved in human cognition
BACKGROUND: Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of a...
Autores principales: | Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847167/ https://www.ncbi.nlm.nih.gov/pubmed/23773660 http://dx.doi.org/10.1186/1750-1172-8-87 |
Ejemplares similares
-
Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises
por: Mohamed, Fedah E., et al.
Publicado: (2017) -
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
por: Ali, Bassam R, et al.
Publicado: (2012) -
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus
Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder
por: Abdelrahman, Hanadi A., et al.
Publicado: (2019) -
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
por: Akawi, Nadia A., et al.
Publicado: (2016) -
Mutation spectrum of Joubert syndrome and related disorders among Arabs
por: Ben-Salem, Salma, et al.
Publicado: (2014)