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Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.
Kim, Sun Young; Ing, Alexander; Gong, Shunyou; Yap, Kai Lee; Bhat, Rukhmi.
Afiliação
  • Kim SY; Department of Pediatrics, Division of Hematology/Oncology/Stem Cell Transplant, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Ing A; Department of Pathology & Laboratory Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Gong S; Department of Pathology & Laboratory Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Yap KL; Department of Pathology & Laboratory Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Bhat R; Department of Pediatrics, Division of Hematology/Oncology/Stem Cell Transplant, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Mol Genet Genomic Med ; 9(3): e1494, 2021 03.
Article em En | MEDLINE | ID: mdl-33595912
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Tromboxano-A Sintase / Anemia Refratária Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Tromboxano-A Sintase / Anemia Refratária Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article