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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Katzenstein JM Author
Subjects of specialization
Affiliation
Weaver syndrome; Child; Genetics; Neuropsychology, Neurocognitive function;
Johns Hopkins All Children
Biography
| Katzenstein JM Johns Hopkins All Children’s Hospital, Child Development and Rehabilitation Center, 880 Sixth Street South, Suite 420, Saint Petersburg, Florida 33701, USA |
Publications
Case Report Subscription
Neurocognitive Functioning in a Young Female with Weaver Syndrome
Author(s): Wise JM, Cooper A, Crenshaw ML and Katzenstein JM
Weaver Syndrome is a low frequency syndrome caused by mutations in the EZH2 gene. Individuals with Weaver Syndrome have similar physical abnormalities as well as overall low cognitive functioning, motor deficits, and difficulties with independent living skills. This is a case study that presents the neurocognitive profile of n 11 year old female diagnosed with Weaver Syndrome. This was the child’s first neuropsychological evaluation following a long-standing history of concerns regarding her cognitive abilities, academic achievement, and independent living skills. Results of the evaluation revealed extremely low range cognitive functioning, as well as below age expectation performance across a majo... view more»
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