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Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3028458/ https://ncbi.nlm.nih.gov/pubmed/22715224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.07.2010.3201 |
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