Is PNPT1 ‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - September 23, 2018 Category: Genetics & Stem Cells Authors: Alison Eaton, Francois P. Bernier, Caitlin Goedhart, Oana Caluseriu, Ryan E. Lamont, Kym M. Boycott, Jillian S. Parboosingh, A. Micheil Innes, Care4Rare Canada Consortium Source Type: research