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...

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Autors principals:	Wei Shin Chou, Yu Ming Shiao, Jia Shing Chen, Ju Chin Tsauer, Yi Fen Chang, Yen-Hui Chiu, Ching Hua Hsiao
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2022-05-01
Col·lecció:	Taiwanese Journal of Obstetrics & Gynecology
Matèries:	Congenital primary aphakia Blepharophimosis Compound heterozygous Chromosome microarray analysis (CMA) Whole exon sequencing (WES)
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S1028455922000870
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