Novel Causative <i>RET</i> Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.

Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.

Higuchi, Tsukasa; Yoshizawa, Kazuki; Hatata, Tomoko; Yoshizawa, Katsumi; Takamizawa, Shigeru; Kobayashi, Jun; Kubota, Noriko; Hidaka, Eiko.

Afiliação

Higuchi T; Department of General Pediatrics, Nagano Children's Hospital, Azumino, Japan.
Yoshizawa K; Life Science Research Center, Nagano Children's Hospital, Azumino, Japan.
Hatata T; Department of Pediatric Surgery, Nagano Children's Hospital, Azumino, Japan.
Yoshizawa K; Department of Pediatric Surgery, Nagano Children's Hospital, Azumino, Japan.
Takamizawa S; Department of Pediatric Surgery, Nagano Children's Hospital, Azumino, Japan.
Kobayashi J; Department of Pediatric Surgery, Nagano Children's Hospital, Azumino, Japan.
Kubota N; Life Science Research Center, Nagano Children's Hospital, Azumino, Japan.
Hidaka E; Department of Clinical Laboratory, Nagano Children's Hospital, Azumino, Japan.

J Pediatr Genet ; 11(3): 240-244, 2022 Sep.

Article em En | MEDLINE | ID: mdl-35990038