GATA2 deficiency of a novel missense variant with multiorgan inflammation.

Baba, Hiroyuki; Kimura, Naoki; Kanegane, Hirokazu; Miya, Fuyuki; Kosaki, Kenjiro; Morio, Tomohiro; Koike, Ryuji

Baba, Hiroyuki; Kimura, Naoki; Kanegane, Hirokazu; Miya, Fuyuki; Kosaki, Kenjiro; Morio, Tomohiro; Koike, Ryuji.

Afiliação

Baba H; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Kimura N; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Morio T; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Koike R; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Rheumatology (Oxford) ; 63(8): e226-e228, 2024 Aug 01.

Article em En | MEDLINE | ID: mdl-38290790

Assuntos

Deficiência de GATA2; Inflamação; Mutação de Sentido Incorreto; Humanos; Deficiência de GATA2/genética; Inflamação/genética; Fator de Transcrição GATA2/genética; Fator de Transcrição GATA2/deficiência; Masculino; Feminino

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Deficiência de GATA2 / Inflamação Limite: Female / Humans / Male Idioma: En Revista: Rheumatology (Oxford) Assunto da revista: REUMATOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Japão

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