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- W2910301346 endingPage "103614" @default.
- W2910301346 startingPage "103614" @default.
- W2910301346 abstract "In everyday practice, a pediatric endocrinologist will face a variety of different endocrine issues (such as short or tall stature, dysthyroidism, abnormal pubertal timing or impaired glucose metabolism), which relevantly contribute to the global care of a number of syndromic conditions. On the other hand, the presence of endocrine features may assist in the diagnostic process, leading to final diagnosis of a syndromic disorder. The intention of this review is to provide a referenced overview of different genetic syndromes characterized by endocrine features, and to present a possible classification, based on whether the endocrinopathy or the syndrome is typically recognized first. Thus, the first part of the manuscript deals with the most common syndromes associated with endocrine dysfunctions, while the second part describes the conditions by which a syndrome is most frequently diagnosed after an endocrine finding. The aim is to provide a practical overview of the assessment of syndromic patients, so that they can be recognized and managed in an integrated, multidisciplinary fashion." @default.
- W2910301346 created "2019-01-25" @default.
- W2910301346 creator A5023125276 @default.
- W2910301346 creator A5046955879 @default.
- W2910301346 creator A5056256956 @default.
- W2910301346 creator A5064507065 @default.
- W2910301346 date "2020-01-01" @default.
- W2910301346 modified "2023-09-25" @default.
- W2910301346 title "Pediatric endocrinology through syndromes" @default.
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- W2910301346 doi "https://doi.org/10.1016/j.ejmg.2019.01.004" @default.
- W2910301346 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30654153" @default.
- W2910301346 hasPublicationYear "2020" @default.
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