A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.

Ali, Zahra; Xing, Chao; Anwar, Didar; Itani, Kamel; Weakley, David; Gong, Xin; Pascual, Juan M; Mootha, V Vinod

Ali, Zahra; Xing, Chao; Anwar, Didar; Itani, Kamel; Weakley, David; Gong, Xin; Pascual, Juan M; Mootha, V Vinod.

Afiliação

Ali Z; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX.
Xing C; University of Texas Southwestern Medical Center, McDermott Center for Human Growth and Development / Center for Human Genetics, Dallas, TX.
Anwar D; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX.
Itani K; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX.
Weakley D; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX.
Gong X; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX.
Pascual JM; University of Texas Southwestern Medical Center, Rare Brain Disorders Program, Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics, Dallas, TX.
Mootha VV; University of Texas Southwestern Medical Center, Department of Ophthalmology, Dallas, TX ; University of Texas Southwestern Medical Center, McDermott Center for Human Growth and Development / Center for Human Genetics, Dallas, TX.

Mol Vis ; 20: 368-75, 2014.

Article em En | MEDLINE | ID: mdl-24715754

Assuntos

Oftalmopatias Hereditárias/genética; Fibrose/genética; Cinesinas/genética; Síndrome de Möbius/genética; Mutação/genética; Transtornos da Motilidade Ocular/genética; Sequência de Aminoácidos; Sequência de Bases; Criança; Sequência Conservada; Análise Mutacional de DNA; Oftalmopatias Hereditárias/fisiopatologia; Feminino; Fibrose/fisiopatologia; Fixação Ocular; Humanos; Cinesinas/química; Imageamento por Ressonância Magnética; Síndrome de Möbius/fisiopatologia; Dados de Sequência Molecular; Transtornos da Motilidade Ocular/fisiopatologia

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Cinesinas / Síndrome de Möbius / Mutação Limite: Child / Female / Humans Idioma: En Revista: Mol Vis Assunto da revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Ano de publicação: 2014 Tipo de documento: Article

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