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

• Main Authors: Wei Shin Chou (Author), Yu Ming Shiao (Author), Jia Shing Chen (Author), Ju Chin Tsauer (Author), Yi Fen Chang (Author), Yen-Hui Chiu (Author), Ching Hua Hsiao (Author)
• Format: Book
• Published: Elsevier, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 chromosom...