Kabuki syndrome: Description of a 2-year old Roumanian boy and review of the literature

Genetic Counseling

Volumn 18, Issue 1, 2007, Pages 113-117

  Ioan, D M ^a   Fryns, J P ^b  

^a C I PARHON NATIONAL INSTITUTE OF ENDOCRINOLOGY   (Romania)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Kabuki syndrome (K.S.); Padded fingers; Padded toes; Peculiar face; Shawl scrotum

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; FACE MALFORMATION; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; INTELLIGENCE QUOTIENT; KABUKI MAKEUP SYNDROME; KARYOTYPE 46,XY; MALE; MEDICAL LITERATURE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; ROMANIA; SCROTUM DISORDER; SHORT STATURE; TOE MALFORMATION;

EID: 34247495496     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

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