Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Conclusion
We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype–phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Martinez-Cayuelas, E., Blanco-Kelly, F., Lopez-Grondona, F., Swafiri, S. T., Lopez-Rodriguez, R., Losada-Del Pozo, R., Mahillo-Fernandez, I., Moreno, B., Rodrigo-Moreno, M., Casas-Alba, D., Lopez-Gonzalez, A., Garcia-Minaur, S., Angeles Mori, M., Pacio-Mi Tags: Genotype-phenotype correlations Source Type: research
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