BCL11B-related disorder in two canadian children: Expanding the clinical phenotype
Madhavi Prasad, Tuğçe B. Balcı, C. Prasad, Joseph Andrews, R. Lee, Michael T. Jurkiewicz, Melanie P. Napier, Samantha Colaiacovo, María J. Guillen Sacoto, Natalya Karp
Topics & Concepts
Global developmental delayHypotoniaExome sequencingCraniofacialMedicinePhenotypeNeurodevelopmental disorderHypoplasiaDevelopmental disorderCorpus callosumAutism spectrum disorderGeneticsBiologyAutismPediatricsInternal medicinePathologyGenePsychiatryGenetics and Neurodevelopmental DisordersPeptidase Inhibition and AnalysisGenomics and Rare Diseases