Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1511-1516

  Hannibal, Mark C ^a,b   Buckingham, Kati J ^a   Ng, Sarah B ^c   Ming, Jeffrey E ^d   Beck, Anita E ^a,b   Mcmillin, Margaret J ^b   Gildersleeve, Heidi I ^a   Bigham, Abigail W ^a   Tabor, Holly K ^a,b   Mefford, Heather C ^a,b   Cook, Joseph ^a   Yoshiura, Koh Ichiro ^e   Matsumoto, Tadashi ^e   Matsumoto, Naomichi ^f   Miyake, Noriko ^f   Tonoki, Hidefumi ^g   Naritomi, Kenji ^h   Kaname, Tadashi ^h   Nagai, Toshiro ⁱ   Ohashi, Hirofumi ^j   Kurosawa, Kenji ^k   Hou, Jia Woei ^l   Ohta, Tohru ^m   Liang, Deshung ⁿ   Sudo, Akira ^o   Morris, Colleen A ^p   Banka, Siddharth ^q   Black, Graeme C ^q   Clayton Smith, Jill ^q   Nickerson, Deborah A ^c   Zackai, Elaine H ^d   Shaikh, Tamim H ^r   Donnai, Dian ^q   Niikawa, Norio ^m   Shendure, Jay ^c   Bamshad, Michael J ^a,b,c   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^f YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g Tenshi Hospital   (Japan)

^h UNIVERSITY OF THE RYUKYUS   (Japan)

ⁱ DOKKYO MEDICAL UNIVERSITY   (Japan)

^j SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^k KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^l CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

^m HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

ⁿ CENTRAL SOUTH UNIVERSITY   (China)

^o SAPPORO CITY GENERAL HOSPITAL   (Japan)

^p UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

^q UNIVERSITY OF MANCHESTER   (United Kingdom)

^r Children's Hospital Colorado   (United States)

more..

Author keywords

ALR; Kabuki syndrome; MLL2; Trithorax group histone methyltransferase

Indexed keywords

HISTONE METHYLTRANSFERASE; MIXED LINEAGE LEUKEMIA 2 PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE MALFORMATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FACE MALFORMATION; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; MLL2 GENE; NONSENSE MUTATION; PATHOGENESIS; PREDICTION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ALLELES; DNA-BINDING PROTEINS; FACE; GENE ORDER; GENETIC TESTING; GENOTYPE; HEMATOLOGIC DISEASES; HUMANS; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; PROGNOSIS; VESTIBULAR DISEASES;

EID: 79959532375     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34074     Document Type: Article

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