Article
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2015
Al-Qattan Sarah M, Wakil Salma M, Anazi Shamsa, Alazami Anas M, Patel Nisha, Shaheen Ranad, Shamseldin Hanan E, Hagos Samya T, AlDossari Haya M, Salih Mustafa A, El Khashab Heba Y, Kentab Amal Y, AlNasser Mohammed N, Bashiri Fahad A, Kaya Namik, Hashem Mais O, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: Molecular karyotyping has rapidly become the test of choice in patients with neurocognitive phenotypes, but studies of its clinical utility have largely been limited to outbred populations. In consanguineous populations, single-gene recessive causes of neurocognitive phenotypes are expec...
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