Title: Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis
Authors: Cools, Filip ×
Jaeken, Jacques #
Issue Date: Sep-1997
Series Title: American Journal of Medical Genetics vol:71 issue:4 pages:472-4
Abstract: We present a child with a remarkable constellation of abnormalities comprising cleft lip and palate, pigmentary retinopathy, hydronephrosis, malrotation of the gut and obstructive liver disease. This patient, together with two other reported cases, seems to represent a new syndrome with some similarities to the Kabuki syndrome.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Academic Center for General Practice
× corresponding author
# (joint) last author

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