Articles with "presenting phenotypically" as a keyword



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Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female

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Published in 2019 at "Case Reports in Endocrinology"

DOI: 10.1155/2019/8917519

Abstract: We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history… read more here.

Keywords: dominant hypophosphatemic; rickets presenting; presenting phenotypically; autosomal dominant ... See more keywords