What is DiGeorge Syndrome? DiGeorge syndrome is a genetic condition where a small part of chromosome 22 is missing. A patient with DiGeorge syndrome is missing…
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Turner Syndrome: A Guide for Families What is Turner Syndrome? Turner syndrome is a genetic condition that affects 1 in every 2,000 to 2,500 live-born girls.…
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Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? It is a condition in boys caused by the presence of an extra X chromosome. Boys…
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Genetic Testing: A Guide for Families What is Genetic Testing? Genetic testing looks for changes in the structure of an individual’s genes. Genes are the DNA…
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A prospective cohort study showing Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children With Prader-Willi Syndrome.
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A review of the current literature pertaining to the endocrine concerns of Prader Willi Syndrome and current recommendations for screening and management of these conditions.
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This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus…
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