De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1744-1749

  Tunovic, Sanjin ^a   Barkovich, James ^b   Sherr, Elliott H ^b   Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ANKRD11; Kabuki syndrome; KBG syndrome; KDM1A; KDM6A

Indexed keywords

HISTONE H3; ANKRD11 PROTEIN, HUMAN; HISTONE DEMETHYLASE; KDM1A PROTEIN, HUMAN; REPRESSOR PROTEIN;

AMINO ACID SUBSTITUTION; ANKRD11 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN MALFORMATION; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME XQ; CLEFT PALATE; CLINICAL FEATURE; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; DEMETHYLATION; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; EXOME; FRONTAL BOSSING; GENE IDENTIFICATION; GENETIC VARIABILITY; HUMAN; KABUKI MAKEUP SYNDROME; KBG SYNDROME; KDM1A GENE; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYRINGOTOMY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PALATOPLASTY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WHITE MATTER INJURY; ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; BRAIN; CONGENITAL MALFORMATION; FACE; FACIES; GENETICS; HEMATOLOGIC DISEASES; INFANT; INTELLECTUAL DISABILITY; MUTATION; PATHOLOGY; TOOTH ABNORMALITIES; VESTIBULAR DISEASES;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; BRAIN; FACE; FACIES; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; TOOTH ABNORMALITIES; VESTIBULAR DISEASES;

EID: 84902545871     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36450     Document Type: Article

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