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Recessive Developmental Delay, Small Stature, Microcephaly and Brain Calcifications with Locus on Chromosome 2
Two interrelated Omani families are described with eight children manifesting a genetic disorder with widespread brain calcifications. Brain imaging showed extensive scattered calcifications of basal ganglia and cortex, suggesting possible Aicardi-Goutiéres syndrome (AGS) or Coats’ Plus syndrome. Ho...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2800951/ https://ncbi.nlm.nih.gov/pubmed/19161147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32630 |
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