Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report

Bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER) gene mutation presents a disease spectrum ranging from a mild type of ischiospinal dysostosis (ISD) to a more severe type of diaphanospondylodysostosis (DSD). It is known that BMPER gene mutations are very rare,...

Descripción completa

Detalles Bibliográficos
Autores principales: Park, Ho Eun, Yoon, Jin A., Shin, Yong Beom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946867/
https://www.ncbi.nlm.nih.gov/pubmed/35328179
http://dx.doi.org/10.3390/diagnostics12030626

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946867/
https://www.ncbi.nlm.nih.gov/pubmed/35328179
http://dx.doi.org/10.3390/diagnostics12030626

Ejemplares similares