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First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients

OBJECTIVE: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic facial dysmorphisms. It has been associated with maternal uniparental disomy (UPD) for chromosome...

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Detalles Bibliográficos
Autores principales: Karaca, Emin, Tuysuz, Beyhan, Pehlivan, Sacide, Ozkinay, Ferda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533142/
https://www.ncbi.nlm.nih.gov/pubmed/23429302