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Comment
. 2018 Aug-Sep;145(8-9):554-555.
doi: 10.1016/j.annder.2018.05.003. Epub 2018 Jul 26.

[Autosomal recessive cutis laxa: New genes identified]

[Article in French]
O Dereure  1
Affiliations
Comment

[Autosomal recessive cutis laxa: New genes identified]

[Article in French]
O Dereure. Ann Dermatol Venereol. 2018 Aug-Sep.
No abstract available

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  • Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
    Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065471 Free PMC article.

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