De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

CONCLUSION: The combination of LR-PCR amplification and medical exome sequencing allows mutational assessment in tubulinopathy genes. Our study expands the spectrum of malformations associated with mutations in the β-tubulin gene TUBB2B. PMID: 30585108 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research