Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Por Yung Chen Chien, Jia Shing Chen, Yu Ming Shiao, Ching Hua Hsiao
Publicado em 2022-05-01

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

Por Wei Shin Chou, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao
Publicado em 2022-05-01

Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis

Por Ju Chin Tsauer, Jia Shing Chen, Yu Ming Shiao, Wei Shin Chou, Yi Fen Chang, Ching Hua Hsiao
Publicado em 2022-05-01

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

Por Wei Shin Chou, Yu Ming Shiao, Jia Shing Chen, Ju Chin Tsauer, Yi Fen Chang, Yen-Hui Chiu, Ching Hua Hsiao
Publicado em 2022-05-01