LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion disorder – a condition comprising a complex set of developmental phenotypes with a multigenic origin. Epileptic seizures, intellectual disability, growth restriction, motor delay and hypotonia are major c...

Descripción completa

Detalles Bibliográficos
Autores principales: Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007405/
https://www.ncbi.nlm.nih.gov/pubmed/24626991
http://dx.doi.org/10.1242/dmm.014464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007405/
https://www.ncbi.nlm.nih.gov/pubmed/24626991
http://dx.doi.org/10.1242/dmm.014464

Ejemplares similares