Title: An 8.9 year old girl with autism and Gorlin syndrome
Authors: Delbroek, Hanne
Steyaert, Jean
Legius, Eric # ×
Issue Date: 2011
Publisher: Saunders
Series Title: European Journal of Paediatric Neurology vol:15 issue:3 pages:268-270
Abstract: We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed.
ISSN: 1090-3798
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Research Group Psychiatry
× corresponding author
# (joint) last author

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