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Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development
BACKGROUND: Desert hedgehog (DHH) gene variants are known to cause 46, XY differences/disorders of sex development (DSD). We have identified six patients with 46, XY DSD with seven novel DHH gene variants. Many of these variants were classified as variants of uncertain significance due to their hete...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591740/ https://www.ncbi.nlm.nih.gov/pubmed/31018998 http://dx.doi.org/10.1136/jmedgenet-2018-105893 |