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

作者:Maroofian Reza; Murdocca Michela; Rezaei Delui Hossein; Nekooei Amirhossein; Mojarad Majid; Sangiuolo Federica; Novelli Giuseppe; Superti Furga Andrea; D'Apice Maria Rosaria*
来源:Clinical Dysmorphology, 2018, 27(3): 88-90.
DOI:10.1097/MCD.0000000000000220