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Prader–Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study

We describe the National Institutes of Health rare disease consortium for Prader-Willi syndrome (PWS) developed to address concerns regarding medical care, diagnosis, growth and development, awareness, and natural history. PWS results from errors in genomic imprinting leading to loss of paternally e...

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Podrobná bibliografie
Vydáno v:Am J Med Genet A
Hlavní autoři: Butler, Merlin G., Kimonis, Virginia, Dykens, Elisabeth, Gold, June A., Miller, Jennifer, Tamura, Roy, Driscoll, Daniel J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6065257/
https://ncbi.nlm.nih.gov/pubmed/29271568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38582
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