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Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder that mainly affects men. We described a female patien...
Autores principales: | Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Piazzon, Flavia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248228/ https://www.ncbi.nlm.nih.gov/pubmed/35782622 http://dx.doi.org/10.1016/j.ymgmr.2022.100879 |
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