Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

Authors

Keywords

Geroderma osteodysplastica, Cutis laxa syndrome, Osteoporosis, Whole exome sequencing, Bisphosphonate

Journal

Volume 60, Issue 12, Pages 635-638

Publisher

Elsevier BV

Online

2017-08-12

DOI

10.1016/j.ejmg.2017.08.002

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