JIP2 haploinsufficiency contributes to neurodevelopmental abnormalities in human pluripotent stem cell–derived neural progenitors and cortical neurons

Phelan–McDermid syndrome (also known as 22q13.3 deletion syndrome) is a syndromic form of autism spectrum disorder and currently thought to be caused by heterozygous loss of SHANK3. However, patients most frequently present with large chromosomal deletions affecting several additional genes. We used...

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Detalles Bibliográficos
Autores principales: Roessler, Reinhard, Goldmann, Johanna, Shivalila, Chikdu, Jaenisch, Rudolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238622/
https://www.ncbi.nlm.nih.gov/pubmed/30456368
http://dx.doi.org/10.26508/lsa.201800094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238622/
https://www.ncbi.nlm.nih.gov/pubmed/30456368
http://dx.doi.org/10.26508/lsa.201800094

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