Associated Papers
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Cuinat S et al.
European Journal of Human Genetics : Ejhg, 2025
40114033 (PubMed )
Supplement: 41431_2025_1821_MOESM2_ESM.xlsx › Feuil1
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
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