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Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogenous, but maternal uniparental disomy of chromosome 7 has been demonstrated in ∼7% of cases. This suggests that at least one gene on chromosome 7 is...

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Main Authors: Monk, David, Wakeling, Emma L, Proud, Virginia, Hitchins, Megan, Abu-Amero, Sayeda N., Stanier, Philip, Preece, Michael A., Moore, Gudrun E
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2000
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288348/
https://ncbi.nlm.nih.gov/pubmed/10631135
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