Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
Abstract
:1. Introduction
2. Case Reports
3. Genetic Studies
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Lebon, S.; Quinodoz, M.; Peter, V.G.; Gengler, C.; Blanchard, G.; Cina, V.; Campos-Xavier, B.; Rivolta, C.; Superti-Furga, A. Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes 2021, 12, 1397. https://doi.org/10.3390/genes12091397
Lebon S, Quinodoz M, Peter VG, Gengler C, Blanchard G, Cina V, Campos-Xavier B, Rivolta C, Superti-Furga A. Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes. 2021; 12(9):1397. https://doi.org/10.3390/genes12091397
Chicago/Turabian StyleLebon, Sébastien, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, and Andrea Superti-Furga. 2021. "Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants" Genes 12, no. 9: 1397. https://doi.org/10.3390/genes12091397