Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

Abstract Background Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein‐binding endothelial cell precursor‐derived regulator. The most prominent features of DSD are m...

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Bibliographic Details
Main Authors: Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BMPER
diaphanospondylodysostosis
DSD
ischiospinal dysostosis
ISD
skeletal dysplasia
Online Access:https://doi.org/10.1002/mgg3.1767

Internet

https://doi.org/10.1002/mgg3.1767

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