Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant

Eur J Obstet Gynecol Reprod Biol. 2020 Jan:244:208-210. doi: 10.1016/j.ejogrb.2019.11.031. Epub 2019 Nov 28.

Authors

Ping He¹, Yu Yang¹, Li Zhen¹, Dong-Zhi Li²

Affiliations

¹ Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
² Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China. Electronic address: drlidongzhi2014@sina.com.

PMID: 31812316
DOI: 10.1016/j.ejogrb.2019.11.031

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Agenesis of Corpus Callosum / embryology
Agenesis of Corpus Callosum / genetics*
Child, Preschool
DNA-Binding Proteins / genetics*
Female
Germ-Line Mutation / genetics*
Humans
Maternal Inheritance / genetics*
Mosaicism*
Phenotype
Pregnancy
Syndrome

Substances

AHDC1 protein, human
DNA-Binding Proteins