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Article

Russell-Silver syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2010

Eggermann Thomas

Abstract excerpt

In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry, and further less constant characteristic features. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of...

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Identifiers

PMID: 20803658
DOI: 10.1002/ajmg.c.30274

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