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Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W. Chen CP, et al. Among authors: chuang ty. Taiwan J Obstet Gynecol. 2017 Dec;56(6):821-826. doi: 10.1016/j.tjog.2017.10.021. Taiwan J Obstet Gynecol. 2017. PMID: 29241927 Free article.
Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.
Chen CP, Chang TY, Lin TW, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W. Chen CP, et al. Among authors: chuang ty. Taiwan J Obstet Gynecol. 2018 Feb;57(1):119-122. doi: 10.1016/j.tjog.2017.12.020. Taiwan J Obstet Gynecol. 2018. PMID: 29458880 Free article. Review.
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: chuang ty. 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.
275 results