Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome

Documentation of maternal uniparental disomy of chromosome 7 in 10% of patients with Russell-Silver syndrome (RSS), characterized by prenatal and postnatal growth retardation and dysmorphic features, has suggested the presence of an imprinted gene on chromosome 7 whose mutation is responsible for th...

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Main Authors: Yoshihashi, Hiroshi, Maeyama, Katsuhiro, Kosaki, Rika, Ogata, Tsutomu, Tsukahara, Masato, Goto, Yu-ichi, Hata, Jun-ichi, Matsuo, Nobutake, Smith, Robert J., Kosaki, Kenjiro
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2000
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287191/
https://ncbi.nlm.nih.gov/pubmed/10856193
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