Cerebrovascular diseases in two patients with entire NSD1 deletion

We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging sugg...

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Detalles Bibliográficos
Autores principales: Itai, Toshiyuki, Miyatake, Satoko, Hatano, Taku, Hattori, Nobutaka, Ohno, Atsuko, Aoki, Yusuke, Itomi, Kazuya, Mori, Harushi, Saitsu, Hirotomo, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144564/
https://www.ncbi.nlm.nih.gov/pubmed/34031356
http://dx.doi.org/10.1038/s41439-021-00151-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144564/
https://www.ncbi.nlm.nih.gov/pubmed/34031356
http://dx.doi.org/10.1038/s41439-021-00151-z

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