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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each cas...
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| 主要な著者: | , , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2598049/ https://ncbi.nlm.nih.gov/pubmed/17220210 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047860 |
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