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A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report

BACKGROUND: Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder. And the main clinical manifestations include congenital hypotonic, craniofacial malformation, developmental delay, and intellectual disability. Generally, such patients could be diagnosed beyond t...

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Detalles Bibliográficos
Autores principales: Zhang, Qian, Qin, Zhen, Hu, Ruolan, Li, Yifei, Yang, Fan, Li, Jinrong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285152/
https://www.ncbi.nlm.nih.gov/pubmed/37358997
http://dx.doi.org/10.3389/fmed.2023.1180337