A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11845-022-03246-w.pdf
Reference18 articles.
1. Berk DR, Bentley DD, Bayliss SJ et al (2012) Cutis laxa: a review. J Am Acad Dermatol 66(5):842.e1–84.e17
2. Mohamed M, Kouwenberg D, Gardeitchik T et al (2011) Metabolic cutis laxa syndromes. J Inherit Metab Dis 34(4):907–916
3. Morava E, Lefeber D, Urban Z et al (2008) Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet 16(1):28–35
4. Morava E, Guillard M, Lefeber DJ, Wevers RA (2009) Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 17(9):1099–1110
5. Fischer B, Dimopoulou A, Egerer J et al (2012) Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet 131(11):1761–1773
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1. Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms;Frontiers in Molecular Neuroscience;2023-07-03
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