Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

American Journal of Medical Genetics

Volumn 129 A, Issue 1, 2004, Pages 64-68

  Genevieve D ^a   Amiel, J ^a   Viot, G ^a,b   Le Merrer, M ^a   Sanlaville, D ^a   Urtizberea, A ^c   Gerard M ^d   Munnich, A ^a   Cormier Daire, V ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Unite de Genetique   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

Author keywords

Atypical features; Clinical management; Kabuki syndrome

Indexed keywords

CELIAC DISEASE; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHRONIC DIARRHEA; CLAVICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAPHRAGM DISEASE; FACE DYSMORPHIA; FEMALE; HUMAN; HYPOGLYCEMIA; JAPAN; KABUKI MAKEUP SYNDROME; MALE; MENTAL DEFICIENCY; MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDARTHROSIS; RARE DISEASE; REVIEW; SHORT STATURE; SKELETON MALFORMATION; SYNDROME CHARGE; THROMBOCYTOPENIA; VITILIGO;

EID: 3343007088     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30144     Document Type: Review

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