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A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
Dekker, Jordy; Diderich, Karin E M; Schot, Rachel; Husen, Sofie C; Dremmen, Marjolein H G; Go, Attie T J I; Weerts, Marjolein J A; van Slegtenhorst, Marjon A; Mancini, Grazia M S.
Afiliação
  • Dekker J; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Husen SC; Department of Obstetrics and Prenatal Medicine, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Dremmen MHG; Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Go ATJI; Department of Obstetrics and Prenatal Medicine, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015, GD Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.
Eur J Paediatr Neurol ; 35: 35-39, 2021 Nov.
Article em En | MEDLINE | ID: mdl-34592644

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Malformações do Desenvolvimento Cortical Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Malformações do Desenvolvimento Cortical Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda