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1 Ergebnisse
1
Novel prenatally diagnosed compound heterozygous PXDN varia..:
Wei Shin Chou
;
Yu Ming Shiao
;
Jia Shing Chen
...
http://www.sciencedirect.com/science/article/pii/S1028455922000870. , 2022
Link:
https://doi.org/10.1016/j.tjog.2022.03.019
RT Journal T1
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:125cdae32f3b4a60b9613fb3660733aa&Exemplar=1&LAN=DE A1 Wei Shin Chou A1 Yu Ming Shiao A1 Jia Shing Chen A1 Ju Chin Tsauer A1 Yi Fen Chang A1 Yen-Hui Chiu A1 Ching Hua Hsiao PB Elsevier YR 2022 K1 Congenital primary aphakia K1 Blepharophimosis K1 Compound heterozygous K1 Chromosome microarray analysis (CMA) K1 Whole exon sequencing (WES) K1 Gynecology and obstetrics K1 RG1-991 JF http://www.sciencedirect.com/science/article/pii/S1028455922000870 LK http://dx.doi.org/https://doi.org/10.1016/j.tjog.2022.03.019 DO https://doi.org/10.1016/j.tjog.2022.03.019 SF ELIB - SuUB Bremen
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