ArticleJournal of medical case reports2025

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Yazan A Al-Ajlouni et al.PubMed ↗Full text ↗Publisher ↗

No numbers read from the abstract.