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Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac fail...
保存先:
| 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
1989
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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/PMC1015627/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2738902/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.6.397 |
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