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Author

A. Balázs

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Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · 0 citations

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