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A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

Abstract:

Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-generation pedigree) were analyzed by genome-wide single nucleotide polymorphism arrays, whole exome and Sanger sequencing, and multiplex ligation-dependent probe amplification.

Año de publicación:

2014

Keywords:

    Fuente:

    scopusscopus

    Tipo de documento:

    Article

    Estado:

    Acceso restringido

    Áreas de conocimiento:

    • Genética
    • Genética
    • Medicamento

    Áreas temáticas:

    • Fisiología humana
    • Ginecología, obstetricia, pediatría, geriatría
    • Enfermedades

    Contribuidores:

    Guo M.Guo M.
    Ostrer H.Ostrer H.
    Jaime Guevara-AguirreJaime Guevara-Aguirre
    Carolina GuevaraCarolina Guevara
    Andres ZuritaAndres Zurita
    Marco Guevara-AguirreMarco Guevara-Aguirre
    Dauber A.Dauber A.
    Rosenfeld R.G.Rosenfeld R.G.
    Geng J.Geng J.
    Hwa V.Hwa V.
    Andrew S.Andrew S.
    Oddoux C.Oddoux C.
    Kerns S.L.Kerns S.L.
    Shen Y.Shen Y.