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BackgroundKleefstra syndrome arises from haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations. Patients with Kleefstra syndrome have multisystem involvement including intellectual disability, hypotonia, and characteristic facial features.
MethodsWe report on the severe neonatal presentation of the first case of Kleefstra syndrome associated with hypoplastic...