Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14

A severe Angelman syndrome (AS) patient with a very large deletion (19.3 Mb) at 15q11.2‐q14 required laryngotracheal separation, which is not a common surgery in AS. Comparative genomic hybridization‐based microarrays can be useful to confirm deletion size and clinical severity.

Detalles Bibliográficos
Autores principales: Horikawa, Yohei, Yatsuga, Shuichi, Ohya, Takashi, Okamatsu, Yuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081/
https://www.ncbi.nlm.nih.gov/pubmed/36381038
http://dx.doi.org/10.1002/ccr3.6545

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081/
https://www.ncbi.nlm.nih.gov/pubmed/36381038
http://dx.doi.org/10.1002/ccr3.6545

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