Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female
Sign Up to like & getrecommendations! 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
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2017-0451
Abstract: Abstract Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most… read more here.
Keywords: dominant hypophosphatemic; analysis; analysis three; hypophosphatemic rickets ... See more keywords