Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore, Laura V; Schot, Rachel; Hoogeboom, A Jeannette M; Lincke, Carsten; de Coo, Irenaeus F; Lequin, Maarten H; Dremmen, Marjolein; van Unen, Leontine M A; Saris, Jasper J; Jansen, Anna C; van Slegtenhorst, Marjon A; Wilke, Martina; Mancini, Grazia M S

Vandervore, Laura V; Schot, Rachel; Hoogeboom, A Jeannette M; Lincke, Carsten; de Coo, Irenaeus F; Lequin, Maarten H; Dremmen, Marjolein; van Unen, Leontine M A; Saris, Jasper J; Jansen, Anna C; van Slegtenhorst, Marjon A; Wilke, Martina; Mancini, Grazia M S.

Afiliação

Vandervore LV; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Brussels, Belgium; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center R
Schot R; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Hoogeboom AJM; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Lincke C; Department Pediatrics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
de Coo IF; Department Child Neurology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands; NeMo Expertise Center, Rotterdam, the Netherlands.
Lequin MH; Department of Radiology, Wilhelmina Children's Hospital, UMC, Utrecht, the Netherlands.
Dremmen M; Department Radiology, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
van Unen LMA; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Saris JJ; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Jansen AC; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.
van Slegtenhorst MA; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Wilke M; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Mancini GMS; Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.

Eur J Med Genet ; 61(12): 783-789, 2018 Dec.

Article em En | MEDLINE | ID: mdl-30391508

Assuntos

Craniossinostoses/genética; Malformações do Desenvolvimento Cortical/genética; Microcefalia/genética; Fatores de Transcrição/genética; Adolescente; Agenesia do Corpo Caloso/genética; Agenesia do Corpo Caloso/fisiopatologia; Cerebelo/fisiopatologia; Criança; Pré-Escolar; Craniossinostoses/fisiopatologia; Feminino; Mutação da Fase de Leitura; Humanos; Lactente; Masculino; Malformações do Desenvolvimento Cortical/fisiopatologia; Microcefalia/fisiopatologia; Defeitos do Tubo Neural/genética; Defeitos do Tubo Neural/fisiopatologia; Fenótipo; Escoliose/genética; Escoliose/fisiopatologia

Palavras-chave

Cerebellum; Corpus callosum; Microcephaly; Rhombencephalosynapsis; Tethered cord; ZIC1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Craniossinostoses / Malformações do Desenvolvimento Cortical / Microcefalia Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

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