Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

Clinical Genetics

Volumn 90, Issue 3, 2016, Pages 230-237

  Paderova J ^a   Holubova A ^a   Simandlova M ^a   Puchmajerova A ^a   Vlckova M ^a   Malikova M ^a   Pourova R ^a   Vejvalkova S ^a   Havlovicova M ^a   Senkerikova M ^b   Ptakova N ^a   Drabova J ^a   Geryk, J ^a   Maver, A ^c   Krepelova A ^a   Macek, M ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

^c UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

array CGH; Kabuki syndrome; KDM6A; KMT2D; MLL2; MLL2 Kabuki score; MLPA; phenotyping; Sanger DNA sequencing

Indexed keywords

COMPLEMENTARY DNA;

ADOLESCENT; ARTICLE; AUTISM; BRACHYDACTYLY; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; CZECH (PEOPLE); DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; EXON; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KIDNEY MALFORMATION; KMT2D GENE; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NONSENSE MUTATION; OTITIS MEDIA; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; TESTIS DISEASE; X CHROMOSOME;

EID: 84983383630     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12754     Document Type: Article

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