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Clinical Endocrinology, ISSN 0300-0664, 02/2019, Volume 90, Issue 2, pp. 285 - 292
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
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Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2015, Volume 30, Issue 9, pp. 1738 - 1744
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Endocrinology and Metabolism Clinics of North America, ISSN 0889-8529, 12/2018, Volume 47, Issue 4, pp. 771 - 782
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Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A355
Early diagnosis of rare genetic disorders plays a vital role in preventing the disorder through appropriate genetic counseling. Sometimes early recognition of... 
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