Výsledky vyhledávání - "K. D. Farwell Gonzalez"

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

Autor: R. Temme, K. D. Farwell Gonzalez, Pavel N. Pichurin, J. Mancuso, Stephanie K. Gandomi, Layla Shahmirzadi, Melissa C. Parra, Sha Tang, S. Dugan, Wenqi Zeng

Publikováno v: Journal of Genetic Counseling. 23:289-298

Intellectual disability is a heterogeneous disorder with a wide phenotypic spectrum. Over 1,700 OMIM genes have been associated with this condition, many of which reside on the X-chromosome. The IQSEC2 gene is located on chromosome Xp11.22 and is kno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9066acbe25a64a339965b59c2530771
https://doi.org/10.1007/s10897-013-9671-6

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