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Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Among authors: zimmer ad. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Among authors: zimmer ad. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.
73 results