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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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Detalhes bibliográficos
Publicado no:Life Sci Alliance
Main Authors: Roessler, Reinhard, Goldmann, Johanna, Shivalila, Chikdu, Jaenisch, Rudolf
Formato: Artigo
Idioma:Inglês
Publicado em: Life Science Alliance LLC 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6238622/
https://ncbi.nlm.nih.gov/pubmed/30456368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.26508/lsa.201800094
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