A novel missense mutation of L1CAM in a fetus with isolated hydrocephalus

Abstract
Fetal hydrocephalus is a descriptive diagnosis of symptoms, which can result from numerous causes, including developmental anomalies, chromosomal disorders, genetic syndromes and intrauterine infection (Tully et al. 2014). Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS, OMIM# 307000), also named as X‐linked hydrocephalus, was first described in the 1940s.

Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li Tags: Note Source Type: research