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单词 albright's hereditary osteodystrophy
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Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy n. (also Albright hereditary osteodystrophy) a familial type of pseudohypoparathyroidism characterized by resistance to parathyroid hormone and by physical abnormalities including short stature, round face, short metacarpal and metatarsal bones, and the presence of subcutaneous ectopic calcifications; (also) pseudopseudohypoparathyroidism.This type of pseudohypoparathyroidism results from mutations in a gene coding for a guanine nucleotide binding protein; pseudopseudohypoparathyroidism is now thought to be an incomplete form of the same disorder in persons inheriting the abnormal gene from the father rather than the mother (as a result of genomic imprinting).extracted from Albrightn.
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更新时间:2024/12/24 21:53:22