A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family
Reza Maroofian(National Hospital for Neurology and Neurosurgery), Maria Rosaria D’Apice(University of Rome Tor Vergata), Andrea Superti‐Furga(Genedata (Switzerland)), Amirhossein Nekooei, Federica Sangiuolo(University of Rome Tor Vergata), Majid Mojarad(Mashhad University of Medical Sciences), Giuseppe Novelli(University of Rome Tor Vergata), Hossein Rezaei-Delui, Michela Murdocca(University of Rome Tor Vergata)
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