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Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.
Horikawa, Yohei; Yatsuga, Shuichi; Ohya, Takashi; Okamatsu, Yuki.
Afiliação
  • Horikawa Y; Iizuka Hospital Department of Pediatrics Iizuka Japan.
  • Yatsuga S; Iizuka Hospital Department of Pediatrics Iizuka Japan.
  • Ohya T; Fukuoka University Department of Pediatrics Fukuoka Japan.
  • Okamatsu Y; Iizuka Hospital Department of Pediatrics Iizuka Japan.
Clin Case Rep ; 10(11): e6545, 2022 Nov.
Article em En | MEDLINE | ID: mdl-36381038
ABSTRACT
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article