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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....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Materias: | |
| 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 |