A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1289-1292

  Lederer, Damien ^a   Shears, Debbie ^b   Benoit, Valérie ^a   Verellen Dumoulin, Christine ^a   Maystadt, Isabelle ^a  

^a IPG   (Belgium)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Kabuki syndrome; KDM6A; Seizure; X linked

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXON; FEMALE; FRAMESHIFT MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; INTRON; KABUKI MAKEUP SYNDROME; KDM6A GENE; MALE; MUTATOR GENE; PHENOTYPE; PHYSICAL EXAMINATION; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SKULL RADIOGRAPHY;

EID: 84898923785     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36442     Document Type: Article

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