Expanding the phenotype of TRNT1-related immunodeficiency to include childhood cataract and inner retinal dysfunction

JAMA Ophthalmology

Volumn 134, Issue 9, 2016, Pages 1049-1053

  Hull, Sarah ^a,b   Malik, Aeesha N J ^b   Arno, Gavin ^a,b   Mackay, Donna S ^c   Plagnol, Vincent ^d   Michaelides, Michel ^a,b   Mansour, Sahar ^e   Albanese, Assunta ^f   Brown, Katrina Tatton ^e   Holder, Graham E ^a,b   Webster, Andrew R ^a,b   Heath, Paul T ^f   Moore, Anthony T ^a,b,g  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c WASHINGTON UNIVERSITY   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f ST GEORGE S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; GROWTH HORMONE; NUCLEOTIDYLTRANSFERASE; TRNT1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BALANCE IMPAIRMENT; CASE REPORT; CATARACT EXTRACTION; CHILD; COCHLEA PROSTHESIS; DEVELOPMENTAL DISORDER; ELECTRORETINOGRAM; ESTROGEN THERAPY; EXOME; FAILURE TO THRIVE; FAMILY HISTORY; FEVER; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFANT; INNER RETINAL DYSFUNCTION; LENS IMPLANTATION; LOW DRUG DOSE; MICROCEPHALY; MISSENSE MUTATION; OPHTHALMOLOGY; OVARY INSUFFICIENCY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; SCHOOL CHILD; SHORT STATURE; SIDEROBLASTIC ANEMIA; SUBCAPSULAR CATARACT; TRNT1 GENE; VISUAL ACUITY; CATARACT; COMPLICATION; DNA SEQUENCE; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PEDIGREE; PRESCHOOL CHILD; RETINA DYSTROPHY;

ADOLESCENT; CATARACT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION; NUCLEOTIDYLTRANSFERASES; PEDIGREE; PHENOTYPE; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA;

EID: 84999048426     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2015.5833     Document Type: Article

References (14)

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