Title: Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature
Authors: Ioan, D M ×
Fryns, Jean-Pierre #
Issue Date: 2007
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:18 issue:1 pages:113-117
Abstract: We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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