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.

Affiliation

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 in En | MEDLINE | ID: mdl-37849383

Subject(s)

Arthrogryposis; Humans; Arthrogryposis/genetics; Phenotype; Muscle Proteins/genetics

Key words

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

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis Limits: Humans Language: En Journal: Clin Genet Year: 2024 Type: Article Affiliation country: India

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