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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.
Fredette ME et al.
Aace Clinical Case Reports, 0
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