Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis

Objective: To precision survey a fetal congenital primary aphakia molecular etiology. Case report: A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyotype. Trio studies based on chromosome mic...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Wei Shin Chou, Yu Ming Shiao, Jia Shing Chen, Ju Chin Tsauer, Yi Fen Chang, Yen-Hui Chiu, Ching Hua Hsiao
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2022-05-01
סדרה:	Taiwanese Journal of Obstetrics & Gynecology
נושאים:	Congenital primary aphakia Blepharophimosis Compound heterozygous Chromosome microarray analysis (CMA) Whole exon sequencing (WES)
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S1028455922000870
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!