Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Human Mutation

Volumn 35, Issue 1, 2014, Pages 76-85

  Murray, Jennie E ^a   Bicknell, Louise S ^a   Yigit, Gökhan ^b   Duker, Angela L ^c   van Kogelenberg, Margriet ^d   Haghayegh, Sara ^e   Wieczorek, Dagmar ^f   Kayserili, Hülya ^g   Albert, Michael H ^h   Wise, Carol A ⁱ   Brandon, January ⁱ   Kleefstra, Tjitske ^j   Warris, Adilia ^j   van der Flier, Michiel ^j   Bamforth, J Steven ^k   Doonanco, Kurston ^k   Adès, Lesley ^l,m   Ma, Alan ⁿ   Field, Michael ⁿ   Johnson, Diana ^o   Shackley, Fiona ^o   Firth, Helen ^p   Woods, C Geoffrey ^q   Nürnberg, Peter ^b,r   Gatti, Richard A ^e   Hurles, Matthew ^d   Bober, Michael B ^c   Wollnik, Bernd ^b   Jackson, Andrew P ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF COLOGNE   (Germany)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g ISTANBUL UNIVERSITY   (Turkey)

^h LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

ⁱ TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k UNIVERSITY OF ALBERTA   (Canada)

^l UNIVERSITY OF SYDNEY   (Australia)

^m SYDNEY CHILDREN'S HOSPITAL   (Australia)

ⁿ ROYAL NORTH SHORE HOSPITAL   (Australia)

^o SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^p CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^q UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^r UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

Cytopenia; DNA repair; Immunodeficiency; LIG4; Ligase IV; Malignancy; Nonhomologous end joining; Radiosensitivity

Indexed keywords

LIGASE; LIGASE IV; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DWARFISM; ENZYME DEFICIENCY; EXOME; FACE MALFORMATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; INFANT; INTRAUTERINE GROWTH RETARDATION; LEUKOPENIA; LIGASE IV DEFICIENCY; MALE; MICROCEPHALIC PRIMORDIAL DWARFISM; MICROCEPHALY; MOLECULAR DIAGNOSIS; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPENIA;

CYTOPENIA; DNA REPAIR; IMMUNODEFICIENCY; LIG4; LIGASE IV; MALIGNANCY; NONHOMOLOGOUS END JOINING; RADIOSENSITIVITY;

ABNORMALITIES, MULTIPLE; ADAPTIVE IMMUNITY; ADOLESCENT; CELL LINE; CHILD; CHILD, PRESCHOOL; DNA LIGASES; DWARFISM; EXOME; FEMALE; FETAL GROWTH RETARDATION; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; LEUKOPENIA; MALE; MICROCEPHALY; NEOPLASMS; NIJMEGEN BREAKAGE SYNDROME; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; THROMBOCYTOPENIA;

EID: 84890790193     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22461     Document Type: Article

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