Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Fujimoto, Hana Milena; Fujimoto, Masanori; Sugiura, Takahiro; Nakane, Shigeharu; Wakano, Yasuhiro; Sato, Emi; Oshita, Hironori; Togawa, Yasuko; Sugimoto, Mari; Kato, Takenori; Yasuda, Kazushi; Muramatsu, Kanji; Saitoh, Shinji.

Afiliación

Fujimoto HM; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Sugiura T; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Nakane S; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Wakano Y; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Oshita H; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Togawa Y; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Sugimoto M; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Kato T; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Yasuda K; Department of Cardiology, Aichi Children's Health and Medical Center, Obu, Aichi, Japan.
Muramatsu K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. ss11@med.nagoya-cu.ac.jp.

Hum Genome Var ; 10(1): 24, 2023 Sep 06.

Article en En | MEDLINE | ID: mdl-37673875

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2023 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2023 Tipo del documento: Article