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Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the associatio...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society for Pediatric Endocrinology
2005
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004833/ https://www.ncbi.nlm.nih.gov/pubmed/24790310 http://dx.doi.org/10.1297/cpe.14.45 |