英语词汇“achondrodysplasia, type 1b”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	achondrodysplasia, type 1b
释义	achondrodysplasia, type 1B achondrodysplasia, type 1B An autosomal recessive form (OMIM:600972) of chondrodysplasia characterised by extremely poor skeletal development, resulting in a short trunk, disproportionately large head, protuberant abdomen, hydropic appearance, micromelia and perinatal death. Molecular pathology Caused by defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation.
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achondrodysplasia, type 1B