Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type

BACKGROUND: Variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver–Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome....

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Detalles Bibliográficos
Autores principales: Chen, Congli, Wu, Jin, Liu, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935931/
https://www.ncbi.nlm.nih.gov/pubmed/36816387
http://dx.doi.org/10.3389/fped.2023.1068718

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935931/
https://www.ncbi.nlm.nih.gov/pubmed/36816387
http://dx.doi.org/10.3389/fped.2023.1068718

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