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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism - Journal of Human Genetics

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism - Journal of Human Genetics

TNNI2 at 11p15.5 encodes troponin I2, fast skeletal type, which is a member of the troponin I gene family and a component of the troponin complex. Distal arthrogryposis (DA) is characterized by congenital limb contractures without primary neurological or muscular effects. DA is inherited in an autosomal dominant fashion and is clinically and genetically heterogeneous.

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism - Journal of Human Genetics

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism - Journal of Human Genetics

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