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April 17, 2018 News by Ana Pena, PhD

Genome Sequencing Reveals Sanfilippo Type B and Skeletal Dysplasia in Infant, Case Study Finds

Researchers have diagnosed an infant with two rare conditions, Sanfilippo syndrome type B and skeletal dysplasia, using a genetic technique that examines all protein-coding genes in the body’s cells. The finding underlines the value of using genome sequencing for precise diagnostics, particularly in rare and complex diseases.

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