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

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

Maroofian, Rezaa; Murdocca, Michelab; Rezaei-Delui, Hosseine; Nekooei, Amirhosseinf; Mojarad, Majidg; Sangiuolo, Federicab; Novelli, Giuseppeb,c; Superti-Furga, Andreah; D’Apice, Maria Rosariad

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Clinical Dysmorphology 27(3):p 88-90, July 2018. | DOI: 10.1097/MCD.0000000000000220
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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