Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Stewart, Douglas R ^a   Pemov, Alexander ^a   Johnston, Jennifer J ^b   Sapp, Julie C ^b   Yeager, Meredith ^a   He, Ji ^a   Boland, Joseph F ^a   Burdett, Laurie ^a   Brown, Christina ^c   Gatti, Richard A ^c   Alter, Blanche P ^a   Biesecker, Leslie G ^b   Savage, Sharon A ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL DISORDER; COPY NUMBER VARIATION; DUBOWITZ SYNDROME; EXOME; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; GROWTH DISORDER; HUMAN; IONIZING RADIATION; LIG4 GENE; LYMPHOCYTE; MALE; PHENOTYPE; RADIOSENSITIVITY; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE; WESTERN BLOTTING; DYSKERATOSIS CONGENITA; ECZEMA; FACIES; FEMALE; GENETICS; GROWTH DISORDERS; INTELLECTUAL DISABILITY; MICROCEPHALY;

ADULT; DYSKERATOSIS CONGENITA; ECZEMA; FACIES; FEMALE; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GROWTH DISORDERS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; POLYMORPHISM, SINGLE NUCLEOTIDE; TELOMERE;

EID: 84902439121     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0098686     Document Type: Article

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