A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

Clin Dysmorphol. 2018 Jul;27(3):88-90. doi: 10.1097/MCD.0000000000000220.

¹ Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
² Department of Biomedicine and Prevention, University of Rome Tor Vergata.
³ Department of Radiology, Quaem Hospital.
⁴ Center of Excellence in Medical Education Technology.
⁵ Department of Medical Genetics, University of Medical Sciences, Mashhad, Iran.
⁶ IRCCS Neuromed, Pozzilli (IS).
⁷ Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.
⁸ Department of Medical Laboratory, Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.

No abstract available

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