Author

Liu-Hua Liao

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Open access Sep 2026

A novel HSD3B2 variant of uncertain significance (c.64_66del, p.Leu22del) in a female infant with 3β-hydroxysteroid dehydrogenase deficiency presenting with completely normal external genitalia: a case report

The case of a 10-day-old female infant who presented with feeding difficulties, generalized skin hyperpigmentation, and hyperkalemia, yet had completely normal external genitalia emphasizes that 3β-HSD deficiency should be suspected in neonates with salt-wasting manifestations, even with completely normal external geni...

Yu-Ling Zhang, Bao-An Lin, Liu-Hua Liao · Journal of Medical Case Repo... · 0 citations

Open access Aug 2026

Whole-exome sequencing reveals the genetic landscape and polygenic susceptibility in 1241 patients with clinically suspected hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a severe immunological disorder characterized by dysregulated immune activation. Pathogenic variants in HLH-causative genes serve as diagnostic criteria and guide treatment decisions. However, known genes do not fully explain the molecular basis of many cases, and the pol...

Yu-Huan Meng, Mao-Ting Shen, Shu-yi Guo et al. · npj Genomic Medicine · 0 citations