A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.

Onuki, Takanori; Shibata, Nao; Hiroshima, Shota; Sawano, Kentaro; Nagasaki, Keisuke

Onuki, Takanori; Shibata, Nao; Hiroshima, Shota; Sawano, Kentaro; Nagasaki, Keisuke.

Afiliação

Onuki T; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Shibata N; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Hiroshima S; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Sawano K; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Nagasaki K; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Congenit Anom (Kyoto) ; 62(1): 47-48, 2022 01.

Article em En | MEDLINE | ID: mdl-34591992

Assuntos

Proteínas Hedgehog; Proteínas Hedgehog/genética; Heterozigoto; Japão; Mutação; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Hedgehog Tipo de estudo: Diagnostic_studies País/Região como assunto: Asia Idioma: En Revista: Congenit Anom (Kyoto) Assunto da revista: TERATOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão

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