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The 17q21.31 microdeletion syndrome is characterized by developmental delay, childhood hypotonia, facial dysmorphisms, and congenital malformations, such as cardiac- and renal/urologic abnormalities.

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Latest Publications:
Mutations in KANSL1 cause the 17q21.31 microdeleti.......
Nat. Genet. 2012
Mutations in the chromatin modifier gene KANSL1 ca.......
Nat. Genet.. 2012

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Here you are able to submit clinical information on children or adults with the KdVS (17q21 deletion or KANSL1 mutation). Please note that only professionals in genetics can submit information to the database. For this task a username and password is required.

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Not an account yet? Please send an email to david.koolen@radboudumc.nl with your name, affiliation, address and job-title. Only professionals in genetics can request a login & password. An account will be provided after approval.


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