MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

Clinical Genetics

Volumn 84, Issue 6, 2013, Pages 539-545

  Makrythanasis, P ^a   van Bon, B W ^b   Steehouwer, M ^b   Rodriguez Santiago B ^b,c,d,e   Simpson, M ^g   Dias, P ^g   Anderlid, B M ^h,i   Arts, P ^b   Bhat, M ^j   Augello, B ^k   Biamino, E ^l   Bongers, E M H F ^b   del Campo, M ^c,d,e,m,n   Cordeiro, I ^g   Cueto Gonzalez A M ^n,o   Cusco I ^c,d,e,m   Deshpande, C ^f   Frysira, E ^p   Izatt, L ^q   Flores, R ^c,d,e,m   Galan E ^q   Gener, B ^r   Gilissen, C ^b   Granneman, S M ^b   Hoyer, J ^s   Yntema, H G ^b   Kets, C M ^b   Koolen, D A ^b   Marcelis, C L ^b   Medeira, A ^g   Micale, L ⁱ   Mohammed, S ^f   de Munnik, S A ^b   Nordgren, A ^h,i   Psoni, S ^p   Reardon, W ^t   Revencu, N ^u   Roscioli, T ^b,v   Ruiterkamp Versteeg, M ^b   Santos, H G ^g   Schoumans, J ^h,w   Schuurs Hoeijmakers, J H M ^b   Silengo, M C ^l   Toledo, L ^x   Vendrell, T ⁿ   van der Burgt, I ^b   van Lier, B ^b   Zweier, C ^s   Reymond, A ^y   Trembath, R C ^f   Perez Jurado, L ^c,d,e,m   Dupont, J ^g   de Vries, B B A ^b   Brunner, H G ^b   Veltman, J A ^b   Merla, G ^k   Antonarakis, S E ^b,z   Hoischen, A ^b   more..

^a UNIVERSITY OF GENEVA   (Switzerland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d Hospital del Mas Medical Research Institute (IMIM)   (United States)

^e Quantitative Genomic Medicine Laboratories Ltd (qGenomics)   (Spain)

^f GUY S HOSPITAL   (United Kingdom)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j Centre for Human Genetics   (India)

^k CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^l UNIVERSITY OF TURIN   (Italy)

^m CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

ⁿ HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^o HOSPITAL MÚTUA DE TERRASSA   (Spain)

^p UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^q BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^r HOSPITAL DE CRUCES   (Spain)

^s UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^t OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^u CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^v UNIVERSITY OF NEW SOUTH WALES   (Australia)

^w LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^x HOSPITAL UNIVERSITARIO MATERNO INFANTIL DE CANARIAS   (Spain)

^y UNIVERSITY OF LAUSANNE   (Switzerland)

^z GENEVA UNIVERSITY HOSPITALS   (Switzerland)

more..

Author keywords

Genotype phenotype correlation; Kabuki syndrome; MLL2; Niikawa Kuroki syndrome

Indexed keywords

ARTICLE; CLINICAL FEATURE; EAR DYSPLASIA; EXON; EYEBROW; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; KABUKI MAKEUP SYNDROME; LIP MALFORMATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MLL2 GENE; NONSENSE MUTATION; NOSE APEX; NOSE MALFORMATION; PRIORITY JOURNAL; SCLERA; SINGLE NUCLEOTIDE POLYMORPHISM;

GENOTYPE-PHENOTYPE CORRELATION; KABUKI SYNDROME; MLL2; NIIKAWA-KUROKI SYNDROME;

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

EID: 84881670308     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12081     Document Type: Article

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