A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

Mishra, Shivani; Rai, Archana; Srivastava, Priyanka; Phadke, Shubha R

Mishra, Shivani; Rai, Archana; Srivastava, Priyanka; Phadke, Shubha R.

Afiliación

Mishra S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India.
Rai A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India.
Srivastava P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India. Electronic address: shubharaophadke@gmail.com.

Eur J Med Genet ; 63(3): 103756, 2020 Mar.

Article en En | MEDLINE | ID: mdl-31513940

Asunto(s)

Artrogriposis/genética; Proteínas del Tejido Nervioso/genética; Alelos; Artrogriposis/fisiopatología; Preescolar; Codón Iniciador; Consanguinidad; Femenino; Estudios de Asociación Genética; Genotipo; Heterocigoto; Humanos; Masculino; Mutación; Proteínas del Tejido Nervioso/sangre; Linaje; Fenotipo; Secuenciación del Exoma

Palabras clave

Arthrogryposis multiplex congenita; Initiation codon; Leucine-rich glioma-inactivated 4; Myelin; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Asunto principal: Artrogriposis / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: India

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