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

• Autori principali: Wei Shin Chou (Autore), Yu Ming Shiao (Autore), Jia Shing Chen (Autore), Ju Chin Tsauer (Autore), Yi Fen Chang (Autore), Yen-Hui Chiu (Autore), Ching Hua Hsiao (Autore)
• Natura: Libro
• Pubblicazione: Elsevier, 2022-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...