Publications by Chantal A P van Kempen

Publications by authors named "Chantal A P van Kempen"

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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Jeroen Knijnenburg Yolande van Bever Lorette O M Hulsman Chantal A P van Kempen Galhana M Bolman

Eur J Hum Genet

September 2012

Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.

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