Article
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
European journal of medical genetics - 1 Jan 2000
Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay J P, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A
Abstract excerpt
Genetic heterogeneity in Nijmegen breakage syndrome (NBS) is highlighted by patients showing clinical and cellular features of NBS but with no mutations in NBS1 and normal levels of nibrin. NBS is an autosomal recessive disorder, whose clinical cellular signs include growth and developmental defects, dysmorphic facies, immunodeficiency, cancer predisposition, chromosomal instability and radiosensitivity. NBS is...
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