Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant

Eur J Obstet Gynecol Reprod Biol. 2019 Nov:242:182-184. doi: 10.1016/j.ejogrb.2019.09.025. Epub 2019 Sep 21.

Authors

Yu Yang¹, Yi He², Li Zhen¹, Dong-Zhi Li³

Affiliations

¹ Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
² Dongguan Maternal Women and Children Healthcare Hospital, Dongguan, Guangdong, China.
³ Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: drlidongzhi2014@sina.com.

PMID: 31564459
DOI: 10.1016/j.ejogrb.2019.09.025

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Exome Sequencing
Female
Gestational Age
Hernia, Hiatal / diagnosis*
Humans
Metalloendopeptidases / genetics
Microcephaly / diagnosis*
Mutation
Nephrosis / diagnosis*
Phenotype
Pregnancy
Taiwan / ethnology
Ultrasonography, Prenatal

Substances

Metalloendopeptidases
O-sialoglycoprotein endopeptidase

Supplementary concepts

Galloway Mowat syndrome