Open access
Jul 2026
22q11.2 duplication syndrome and LZTR1-related Noonan syndrome type 10 overlapping phenotypes in a dual diagnosis - fetal hydrops: a case report
Fetuses carrying both a pathogenic copy number variant of duplication in the 22q11.2 region and a heterozygous pathogenic missense variant of the LZTR1 gene simultaneously constitute the main genetic basis for its multisystem abnormalities and severe hydrops.
Zhang-Xiang Zou, Zhe-Chao Zhang, Yan-Chou Ye et al.
· BMC Pregnancy and Childbirth · 0 citations