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H syndrome treated with Tocilizumab: two case reports and literature review
H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe...
Autores principales: | Jacquot, Robin, Jouret, Maurine, Valentin, Mathieu Gerfaud, Richard, Maël, Jamilloux, Yvan, Rousset, Florent, Emile, Jean-François, Haroche, Julien, Steinmüller, Lars, Zekre, Franck, Phan, Alice, Belot, Alexandre, Seve, Pascal |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10451072/ https://www.ncbi.nlm.nih.gov/pubmed/37638031 http://dx.doi.org/10.3389/fimmu.2023.1061182 |
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