Novel and recurrent <i>COMP</i> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.

Hasegawa, Kosei; Futagawa, Natsuko; Ago, Yuko; Miyahara, Hiroyuki; Harada, Daisuke; Miyazawa, Mari; Yoshimoto, Junko; Baba, Kenji; Moriwake, Tadashi; Tanaka, Hiroyuki; Tsukahara, Hirokazu

Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.

Hasegawa, Kosei; Futagawa, Natsuko; Ago, Yuko; Miyahara, Hiroyuki; Harada, Daisuke; Miyazawa, Mari; Yoshimoto, Junko; Baba, Kenji; Moriwake, Tadashi; Tanaka, Hiroyuki; Tsukahara, Hirokazu.

Afiliação

Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Futagawa N; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Ago Y; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Miyahara H; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Harada D; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Miyazawa M; Department of Pediatrics, JCHO Osaka Hospital, Osaka, Japan.
Yoshimoto J; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Baba K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Moriwake T; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Tanaka H; Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, Japan.
Tsukahara H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan.

Clin Pediatr Endocrinol ; 32(4): 221-227, 2023.

Article em En | MEDLINE | ID: mdl-37842142

Palavras-chave

cartilage; growth; infant; skeleton; spine

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Clin Pediatr Endocrinol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão