Author:
Mazaheri Mahta,Jahantigh Hamid Reza,Yavari Mahdie,Mirjalili Seyed Reza,Vahidnezhad Hassan
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Reference27 articles.
1. Callewaert BL, Urban Z (2022) LTBP4-related cutis laxa synonyms: autosomal recessive cutis laxa type 1C (ARCL1C), Urban-Rifkin-Davis syndrome (URDS). Gene Reviews
2. Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O et al (2013) Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat 34(1):111–121
3. Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B et al (2017) Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. Am J Hum Genet 100(2):216–227
4. Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B et al (2014) Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet 22(7):888–895
5. Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z (2012) Cutis laxa: a review. J Am Acad Dermatol 66(5):842
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献