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Journal Article
PLoS ONE, ISSN 1932-6203, 06/2014, Volume 9, Issue 6, p. e98686
Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk... 
SEVERE COMBINED IMMUNODEFICIENCY | TELOMERE BIOLOGY DISORDERS | NIJMEGEN BREAKAGE SYNDROME | MULTIDISCIPLINARY SCIENCES | DYSKERATOSIS-CONGENITA | ANAL CANCER | CARNEY COMPLEX | HUMAN-PAPILLOMAVIRUS | DNA-LIGASE-IV | ATAXIA-TELANGIECTASIA | NEUTRAL COMET ASSAY | Eczema - diagnosis | Eczema - genetics | Microcephaly - genetics | Humans | Growth Disorders - diagnosis | Microcephaly - diagnosis | Genotype | Male | Dyskeratosis Congenita - genetics | Genetic Heterogeneity | Intellectual Disability - genetics | Dyskeratosis Congenita - diagnosis | Intellectual Disability - diagnosis | Facies | Polymorphism, Single Nucleotide - genetics | Adult | Female | Growth Disorders - genetics | Frameshift Mutation - genetics | Telomere - genetics | Ionizing radiation | Genetic disorders | Chromosomes | Genomics | Radiosensitivity | Genetic variability | Laboratories | Congenital defects | Disorders | Cognitive ability | Frameshift mutation | Genomes | Single-nucleotide polymorphism | Malignancy | Kinases | Microcephaly | Epidemiology | Western blotting | Carney complex | Gene sequencing | Defects | Proteins | Eczema | Bone marrow | Genetics | LIG4 protein | Chromosome 17 | Deoxyribonucleic acid--DNA | Siblings | Dyskeratosis | Congenital diseases | Review boards | Abnormalities | Chromosome deletion | Patients | Heterozygosity | Medicine | Telomeres | Genotyping | Congenital anomalies | Informed consent | Mutation | Cancer | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2014, Volume 10, Issue 10, p. e1004575
Journal Article
Genome Medicine, ISSN 1756-994X, 12/2018, Volume 10, Issue 1, pp. 99 - 9
Journal Article
Journal Article
Haematologica, ISSN 0390-6078, 2016, Volume 101, Issue 7, pp. 846 - 852
Journal Article
Nucleic acids research, ISSN 0305-1048, 2005, Volume 33, Issue 2, pp. e11 - e11
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 11/2009, Volume 50, Issue 11, pp. 5035 - 5043