Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Jacobs, Eva Z; Brown, Kathleen; Byler, Melissa C; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B; Humberson, Jennifer B; van Jaarsveld, Richard H; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J; Rhodes, Lindsay; Saenz, Margarita; Seaver, Laurie H; Si, Yue; Vanlander, Arnaud; Vergult, Sarah; Callewaert, Bert

Jacobs, Eva Z; Brown, Kathleen; Byler, Melissa C; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B; Humberson, Jennifer B; van Jaarsveld, Richard H; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J; Rhodes, Lindsay; Saenz, Margarita; Seaver, Laurie H; Si, Yue; Vanlander, Arnaud; Vergult, Sarah; Callewaert, Bert.

Afiliação

Jacobs EZ; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Brown K; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
Byler MC; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.
D'haenens E; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.
Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Henderson LB; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
Humberson JB; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
van Jaarsveld RH; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
Kanani F; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
Lebel RR; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia, USA.
Millan F; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Oegema R; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
Oostra A; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.
Parker MJ; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
Rhodes L; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Saenz M; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.
Seaver LH; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium.
Si Y; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
Vanlander A; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
Vergult S; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.
Callewaert B; Medical Genetics and Genomics, Spectrum Health Helen Devos Children's Hospital, Grand Rapids, Michigan, USA.

Clin Genet ; 99(2): 259-268, 2021 02.

Article em En | MEDLINE | ID: mdl-33131045

Assuntos

Proteínas de Ligação ao Cálcio/genética; Doenças do Sistema Nervoso/genética; Transativadores/genética; Adolescente; Criança; Pré-Escolar; Transtornos Cognitivos/genética; Análise Mutacional de DNA; Deficiências do Desenvolvimento/genética; Feminino; Humanos; Masculino; Fenótipo

Palavras-chave

CAMTA1; cerebellar dysfunction; clinical variation; developmental delay; genotype-phenotype correlations; intellectual disability; mutation spectrum; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Transativadores / Doenças do Sistema Nervoso Tipo de estudo: Systematic_reviews Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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