Article
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Birth defects research. Part A, Clinical and molecular teratology - 1 Dec 2014
Campbell Candace L, Collins R Thomas, Zarate Yuri A
Abstract excerpt
BACKGROUND: Kleefstra 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. METHODS: We report on the severe neonatal presentation of the first case of Kleefstra syndrome associated with hypoplastic left heart...
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