Article
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome.
The Journal of clinical endocrinology and metabolism - 1 Jun 2018
Patti Giuseppa, Giaccardi Marta, Capra Valeria, Napoli Flavia, Cangemi Giuliana, Notarnicola Sara, Guzzetti Sara, Russo Silvia, Maghnie Mohamad, Di Iorgi Natascia
Abstract excerpt
Context: There is little information on the long-term natural history of Silver-Russell syndrome (SRS). Objective: To describe the phenotypes and metabolic status in adults with SRS. Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS. Participants: Seven patients (aged 18 to 46 years; mean age, 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, three...
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