Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects
Abstract 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...
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Autores principales: | , , , , |
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Formato: | article |
Lenguaje: | EN |
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Knowledge E
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/c6e33f8814c74ab7802c31e7383e0242 |
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