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2020
Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger 
ORCID: 0000-0002-0169-998X, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C. and Sprecher, Eli
(2020).
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Genet. Med., 22 (7).
S. 1227 - 1235.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
2010
Oji, Vinzenz ORCID: 0000-0003-1380-4828, Tadini, Gianluca, Akiyama, Masashi, Bardon, Claudine Blanchet, Bodemer, Christine, Bourrat, Emmanuelle, Coudiere, Philippe, DiGiovanna, John J., Elias, Peter, Fischer, Judith ORCID: 0000-0002-8580-8118, Fleckman, Philip, Gina, Michal, Harper, John, Hashimoto, Takashi, Hausser, Ingrid, Hennies, Hans Christian, Hohl, Daniel, Hovnanian, Alain ORCID: 0000-0003-3412-7512, Ishida-Yamamoto, Akemi, Jacyk, Witold K., Leachman, Sancy, Leigh, Irene, Mazereeuw-Hautier, Juliette, Milstone, Leonard, Morice-Picard, Fanny, Paller, Amy S., Richard, Gabriele, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Shimizu, Hiroshi, Sprecher, Eli, Van Steensel, Maurice, Taieb, Alain, Toro, Jorge R., Vabres, Pierre ORCID: 0000-0001-8693-3183, Vahlquist, Anders, Williams, Mary and Traupe, Heiko
(2010).
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009.
J. Am. Acad. Dermatol., 63 (4).
S. 607 - 642.
NEW YORK:
MOSBY-ELSEVIER.
ISSN 0190-9622