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Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
Chen CP, Ko TM, Chang TY, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W. Chen CP, et al. Among authors: chern sr. Taiwan J Obstet Gynecol. 2018 Feb;57(1):123-127. doi: 10.1016/j.tjog.2017.12.021. Taiwan J Obstet Gynecol. 2018. PMID: 29458881 Free article.
433 results