De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1613-1621

  Yang, Pu ^a   Tan, Hu ^a   Xia, Yan ^a   Yu, Qian ^b   Wei, Xianda ^a   Guo, Ruolan ^a   Peng, Ying ^a   Chen, Chen ^a,c   Li, Haoxian ^a   Mei, Libin ^a   Huang, Yanru ^a   Liang, Desheng ^a   Wu, Lingqian ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Clinical variability; Kabuki syndrome; Lysine (K) specific demethylase 6A; Skin allergic manifestations

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHINESE; CHROMOSOME XP; CHROMOSOME XP11.3; CONTROLLED STUDY; EAR MALFORMATION; EXON; EYE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; KABUKI MAKEUP SYNDROME; KDM6A GENE; NOSE MALFORMATION; PRIORITY JOURNAL; SCANTY HAIR; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN ALLERGY; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CHINA; DNA MICROARRAY; DNA MUTATIONAL ANALYSIS; FACE; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEMATOLOGIC DISEASES; NEWBORN; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; VESTIBULAR DISEASES; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION;

HISTONE DEMETHYLASE; NUCLEAR PROTEIN; UTX PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; FACE; FACIES; FEMALE; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; VESTIBULAR DISEASES; X CHROMOSOME INACTIVATION;

EID: 84963574753     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37634     Document Type: Article

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