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Семейный случай гипогонадотропного гипогонадизма как проявление синдрома CHARGE
CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a mult...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrinology Research Centre
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753822/ https://www.ncbi.nlm.nih.gov/pubmed/34297504 http://dx.doi.org/10.14341/probl12748 |