The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

ConclusionWe report a novel homozygousCREB3L1 mutation in a large Indonesian family; the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene.

Source: Molecular Genetics & Genomic Medicine - June 16, 2019 Category: Genetics & Stem Cells Authors: Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha Tags: CLINICAL REPORT Source Type: research