Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus.

Sullivan, William; Reeves, Benjamin C; Duy, Phan Q; Nelson-Williams, Carol; Dong, Weilai; Jin, Sheng Chih; Kahle, Kristopher T · JAMA Pediatr · 2021

prospective_cohort · Level II

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Abstract

This study evaluates whole-exome sequencing as a diagnostic tool in a cohort of neurosurgically treated congenital hydrocephalus probands.

Medical subject headings