PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

This study expands the PIGH deficiency phenotype range towards the severe end of the spectrum with the identification of a novel pathogenic variant.
PMID: 33156547 [PubMed - as supplied by publisher]

Source: Clinical Genetics - November 6, 2020 Category: Genetics & Stem Cells Authors: Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM Tags: Clin Genet Source Type: research