Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Tiwari, Amit K; Srinivasan, Varunvenkat M; Phadke, Shubha R; Saxena, Deepti

Tiwari, Amit K; Srinivasan, Varunvenkat M; Phadke, Shubha R; Saxena, Deepti.

Afiliación

Tiwari AK; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Srinivasan VM; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Saxena D; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Clin Genet ; 105(2): 226-227, 2024 02.

Article en En | MEDLINE | ID: mdl-37849383

ABSTRACT

ABSTRACT

We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.

Asunto(s)

Artrogriposis; Humanos; Artrogriposis/genética; Fenotipo; Proteínas Musculares/genética

Palabras clave

DOK7; FADS; MuSK; akinesia; congenital myasthenic syndrome; contractures

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Artrogriposis Límite: Humans Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: India

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