NBS
We describe a patient with a NBS clinical phenotype, chromosomal sensitivity to X-rays but without mutations in the whole NBS1 or in the Cernunnos gene.
We describe a patient with a <span class="disease" id="17395558-6-29-32">NBS</span> clinical phenotype, chromosomal sensitivity to X-rays but without mutations in the whole <span class="gene" id="17395558-6-122-126">NBS1</span> or in the Cernunnos gene.