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Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
PURPOSE: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. METHODS: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extr...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PUBLISHED BY KNOWLEDGE E
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8593543/ https://www.ncbi.nlm.nih.gov/pubmed/34840683 http://dx.doi.org/10.18502/jovr.v16i4.9750 |