Author

Haofeng Ning

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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

Open access Aug 2026

Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family

It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.

Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al. · Frontiers in Genetics · 0 citations