Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the <i>BMPER</i> Gene: A Case Report.

Park, Ho Eun; Yoon, Jin A; Shin, Yong Beom

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

Park, Ho Eun; Yoon, Jin A; Shin, Yong Beom.

Afiliação

Park HE; Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan 49241, Korea.
Yoon JA; Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan 49241, Korea.
Shin YB; Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, Busan 49241, Korea.

Diagnostics (Basel) ; 12(3)2022 Mar 03.

Article em En | MEDLINE | ID: mdl-35328179

Palavras-chave

bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER); diaphanospondylodysostosis (DSD); ischiospinal dysostosis (ISD); respiratory failure

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article