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A Patient with Neonatal Cholestasis
The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune–Albright syndrome, as well as Gilbert syndrome and Charcot–Marie–Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increas...
Autores principales: | Claeys, Kristl G., Breysem, Luc, Legius, Eric, Brems, Hilde, Cassiman, David, Moisse, Matthieu, Vermeersch, Pieter, Levtchenko, Elena, Jaeken, Jaak |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8330358/ https://www.ncbi.nlm.nih.gov/pubmed/33684277 http://dx.doi.org/10.34763/jmotherandchild.20202404.d-20-00012 |
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