Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn, Patrick R; Barnett, Sarah S; Zimmermann, Michael T; Cousin, Margot A; Kaiwar, Charu; Pinto E Vairo, Filippo; Niu, Zhiyv; Ferber, Matthew J; Urrutia, Raul A; Selcen, Duygu; Klee, Eric W; Pichurin, Pavel N

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn, Patrick R; Barnett, Sarah S; Zimmermann, Michael T; Cousin, Margot A; Kaiwar, Charu; Pinto E Vairo, Filippo; Niu, Zhiyv; Ferber, Matthew J; Urrutia, Raul A; Selcen, Duygu; Klee, Eric W; Pichurin, Pavel N.

Afiliação

Blackburn PR; Center for Individualized Medicine, Mayo Clinic, Jacksonville, Florida 32224, USA.
Barnett SS; Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida 32224, USA.
Zimmermann MT; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Kaiwar C; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Niu Z; Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona 85259, USA.
Ferber MJ; Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona 85259, USA.
Urrutia RA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Selcen D; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.

Cold Spring Harb Mol Case Stud ; 3(3): a001743, 2017 05.

Article em En | MEDLINE | ID: mdl-28487885

Assuntos

Transtornos do Neurodesenvolvimento/genética; Fatores de Transcrição/genética; Pré-Escolar; DNA/metabolismo; Proteínas de Ligação a DNA/genética; Deficiências do Desenvolvimento/genética; Exoma; Feminino; Humanos; Deficiência Intelectual/genética; Transtornos do Desenvolvimento da Linguagem/genética; Mutação/genética; Mutação de Sentido Incorreto; Fenótipo; Fatores de Transcrição/metabolismo

Palavras-chave

bicornuate uterus; congenital strabismus; downturned corners of mouth; generalized neonatal hypotonia; hydronephrosis; hydroureter; low posterior hairline; microretrognathia; moderate global developmental delay; neurogenic bladder; poor speech; recurrent urinary tract infections; short stature; urethral stricture; vesicoureteral reflux

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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