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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
BACKGROUND: Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying b...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993747/ https://www.ncbi.nlm.nih.gov/pubmed/36890482 http://dx.doi.org/10.1186/s12887-023-03920-7 |