A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases

Stattin EL, Johansson J, Gudmundsson S, Ameur A, Lundberg S, Bondeson ML, Wilbe M

Am J Med Genet 176 (6) 1405-1410 [2018-06-00; online 2018-04-16]

Bioinformatics Compute and Storage [Service]

NGI Uppsala (Uppsala Genome Center) [Service]

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PubMed 29663639

DOI 10.1002/ajmg.a.38691

Crossref 10.1002/ajmg.a.38691