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

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 missing o...

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Detalles Bibliográficos
Autores principales: Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683618/
https://www.ncbi.nlm.nih.gov/pubmed/34288564
http://dx.doi.org/10.1002/mgg3.1767

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683618/
https://www.ncbi.nlm.nih.gov/pubmed/34288564
http://dx.doi.org/10.1002/mgg3.1767

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