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Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.
A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46,...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
1977
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013627/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/592357/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.5.383 |
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