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Turner syndrome presented with tall stature due to overdosage of the SHOX gene
Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall st...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society of Pediatric Endocrinology
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504991/ https://www.ncbi.nlm.nih.gov/pubmed/26191517 http://dx.doi.org/10.6065/apem.2015.20.2.110 |