[She presented signs of Albright osteodystrophy (short stature, round facies, obesity, short neck, brachydactylia), hypocalcemia (ionized calcium of 1.08 mmol/l and total calcium of 6.7 mg/dl) hyperphosphatemia (9.4 mg/dl), elevated serum PTH levels (223.0 pg/ml), osteoporosis, and hypergonadotrophic hypogonadism (7.0 mU/ml LH, 9.3 mU/ml FSH and undetectable estradiol levels).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE