Associated Papers
A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.
Daşar T et al.
European Journal of Medical Genetics, 2024
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun F et al.
Molecular Genetics & Genomic Medicine, 2021
Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.
Lockhart-Cairns MP et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2019
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Kuchinskaya E et al.
Orphanet Journal of Rare Diseases, 2016
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J et al.
Plos Genetics, 2011
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Funari VA et al.
American Journal of Human Genetics, 2010
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