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De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

bioRxiv

Jan 11, 2015

Jessica Xiao-Ling ChongMichael J. Bamshad

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Abstract

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five simplex cases pu...read more

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Congenital Abnormality
Arthrogryposis
Cessation of Life
Abnormal Degeneration
Dopamine
Limb Structure
Face
Chromosome Inversion
Body Part Inversion
Molecular Probe Techniques
13
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  • De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

    bioRxiv

    Jan 11, 2015

    Jessica Xiao-Ling ChongMichael J. Bamshad

    PMID: 990013656

    DOI: 10.1101/013656

    Abstract

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five simplex cases pu...read more

    Mentioned in this Paper

    Congenital Abnormality
    Arthrogryposis
    Cessation of Life
    Abnormal Degeneration
    Dopamine
    13

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