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Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

We report a novel autosomal recessive disorder characterized by premature chromosome condensation in the early G2 phase. It was observed in two siblings, from consanguineous parents, affected with microcephaly, growth retardation, and severe mental retardation. Chromosome analysis showed a high freq...

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Bibliografische gegevens
Hoofdauteurs: Neitzel, Heidemarie, Neumann, Luitgard M., Schindler, Detlev, Wirges, Andreas, Tönnies, Holger, Trimborn, Marc, Krebsova, Alice, Richter, Reyk, Sperling, Karl
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2002
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC379095/
https://ncbi.nlm.nih.gov/pubmed/11857108
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