How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

European Journal of Human Genetics

Volumn 20, Issue 4, 2012, Pages 381-388

  Banka, Siddharth ^a   Veeramachaneni, Ratna ^a   Reardon, William ^b   Howard, Emma ^a   Bunstone, Sancha ^a   Ragge, Nicola ^c   Parker, Michael J ^d   Crow, Yanick J ^a   Kerr, Bronwyn ^a   Kingston, Helen ^a   Metcalfe, Kay ^a   Chandler, Kate ^a   Magee, Alex ^e   Stewart, Fiona ^e   McConnell, Vivienne P M ^e   Donnelly, Deirdre E ^e   Berland, Siren ^f   Houge, Gunnar ^f   Morton, Jenny E ^g   Oley, Christine ^g   Revencu, Nicole ^h   Park, Soo Mi ⁱ   Davies, Sally J ^j   Fry, Andrew E ^j   Lynch, Sally Ann ^b   Gill, Harinder ^b   Schweiger, Susann ^k   Lam, Wayne W K ^l   Tolmie, John ^m   Mohammed, Shehla N ⁿ   Hobson, Emma ^o   Smith, Audrey ^o   Blyth, Moira ^o   Bennett, Christopher ^o   Vasudevan, Pradeep C ^p   García Miñaúr, Sixto ^q   Henderson, Alex ^r   Goodship, Judith ^r,u   Wright, Michael J ^r   Fisher, Richard ^r   Gibbons, Richard ^s   Price, Susan M ^s   De Silva, Deepthi C ^t   Temple, I Karen ^c   Collins, Amanda L ^c   Lachlan, Katherine ^c   Elmslie, Frances ^v   McEntagart, Meriel ^v   Castle, Bruce ^w   Clayton Smith, Jill ^a   Black, Graeme C ^a   Donnai, Dian ^a   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^d SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^g BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^h CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁱ ADDENBROOKE S HOSPITAL   (United Kingdom)

^j UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^k UNIVERSITY OF DUNDEE   (United Kingdom)

^l WESTERN GENERAL HOSPITAL   (United Kingdom)

^m ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

ⁿ GUY S HOSPITAL   (United Kingdom)

^o Yorkshire Regional Genetics Service   (United Kingdom)

^p LEICESTER ROYAL INFIRMARY   (United Kingdom)

^q HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^r NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^s CHURCHILL HOSPITAL   (United Kingdom)

^t UNIVERSITY OF KELANIYA   (Sri Lanka)

^u NEWCASTLE UNIVERSITY   (United Kingdom)

^v ST GEORGE S HOSPITAL   (United Kingdom)

^w ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

more..

Author keywords

facial dysmorphism; genetic heterogeneity; Kabuki syndrome; MLL2; mutation spectrum

Indexed keywords

MIXED LINEAGE LEUKEMIA PROTEIN;

BREAST DEVELOPMENT; CLEFT PALATE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; EXON; FACE DYSMORPHIA; FEEDING DISORDER; GENE; GENE FUNCTION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GYNECOMASTIA; HUMAN; JOINT DISLOCATION; KABUKI MAKEUP SYNDROME; KIDNEY ANOMALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MLL2 GENE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECURRENT INFECTION; REVIEW;

ABNORMALITIES, MULTIPLE; COHORT STUDIES; DNA-BINDING PROTEINS; FACE; FEMALE; GENETIC HETEROGENEITY; HEMATOLOGIC DISEASES; HUMANS; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; VESTIBULAR DISEASES;

EID: 84858342744     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.220     Document Type: Review

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