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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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 |