Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1611-1614

  Ijspeert, Hanna ^a   Warris, Adilia ^b   van der Flier, Michiel ^b   Reisli, Ismail ^c   Keles, Sevgi ^c   Chishimba, Sandra ^a   van Dongen, Jacques J M ^a   van Gent, Dik C ^a   Van der Burg, Mirjam ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

Author keywords

Immunodeficiency; LIG4; NHEJ; Non homologous end joining; Primordial dwarfism

Indexed keywords

IMMUNOGLOBULIN; LIG4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; XRCC4 PROTEIN;

ARTICLE; B LYMPHOCYTE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DNA END JOINING REPAIR; DWARFISM; DYSMATURITY; ERYTHEMA; HETEROZYGOSITY; HUMAN; INFANT; KNOCKOUT MOUSE; MALE; NEUROLOGIC DISEASE; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL;

MUS;

IMMUNODEFICIENCY; LIG4; NHEJ; NON-HOMOLOGOUS END JOINING; PRIMORDIAL DWARFISM;

ABNORMALITIES, MULTIPLE; CELL NUCLEOLUS; DNA LIGASES; FACIES; GENE EXPRESSION; GENE ORDER; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEIN BINDING; PROTEIN TRANSPORT; SYNDROME;

EID: 84887607453     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22436     Document Type: Article

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