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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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Detalhes bibliográficos
Main Authors: Rajab, Anna, Aldinger, Kimberly A., El-Shirbini, Hisham Ali, Dobyns, William B., Ross, M. Elizabeth
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha: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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