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UChicago Genetic Testing
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Congenital Malformations
Temple-Baraitser Syndrome Testing (KCNH1)
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
UPD14 testing
UPD7 testing
Wiedemann-Steiner Syndrome Testing (KMT2A (MLL))
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