Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review

BACKGROUND: Schaaf-Yang syndrome (SYS) is a recently identified rare neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulty, joint contractures, autism spectrum disorder and development delay/intellectual disability. It is mainly caused by truncating variants in maternal...

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Detalles Bibliográficos
Autores principales: Huang, Zhongwen, Lu, Wei, Zhang, Ping, Lu, Yulan, Chen, Liping, Kang, Wenqing, Yang, Lin, Li, Gang, Zhu, Jitao, Wu, Bingbing, Zhou, Wenhao, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316094/
https://www.ncbi.nlm.nih.gov/pubmed/37404980
http://dx.doi.org/10.21037/atm-22-4396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316094/
https://www.ncbi.nlm.nih.gov/pubmed/37404980
http://dx.doi.org/10.21037/atm-22-4396

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