X-linked cataract and Nance-Horan syndrome are allelic disorders

Human Molecular Genetics

Volumn 18, Issue 14, 2009, Pages 2643-2655

  Coccia, Margherita ^a   Brooks, Simon P ^a   Webb, Tom R ^a   Christodoulou, Katja ^a   Wozniak, Izabella O ^a   Murday, Victoria ^b   Balicki, Martha ^c,k   Yee, Harris A ^c,l   Wangensteen, Teresia ^d   Riise, Ruth ^e   Saggar, Anand K ^f   Park, Soo Mi ^g   Kanuga, Naheed ^a   Francis, Peter J ^a,m   Maher, Eamonn R ^h   Moore, Anthony T ^a,i   Russell Eggitt, Isabelle M ^j   Hardcastle, Alison J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^e Department of Ear   (Norway)

^f ST GEORGE S HOSPITAL   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

ⁱ MOORFIELDS EYE HOSPITAL   (United Kingdom)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k BC CHILDREN S HOSPITAL   (Canada)

^l Medical Genetics Clinic   (Canada)

^m or 97239 4197   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN NHS; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL CATARACT; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE NUMBER; GENE REARRANGEMENT; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NANCE HORAN SYNDROME; NULL ALLELE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; TRANSCRIPTION REGULATION; X CHROMOSOME LINKED DISORDER;

ADULT; BASE SEQUENCE; CATARACT; CHILD; CHILD, PRESCHOOL; FEMALE; GENE DOSAGE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; YOUNG ADULT;

EID: 67649848389     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp206     Document Type: Article

References (35)

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