Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A , POLR3B and POLR1C .

Amytice MirchiSimon-Pierre GuayLuan T TranNicole I WolfAdeline VanderverBernard BraisMichel SylvainDaniela PohlElsa RossignolMichael SaitoSebastien MouttonLuis González-Gutiérrez-SolanaIsabelle ThiffaultMichael C KruerDolores Gonzales MoronMarcelo KauffmanCyril GoizetLászló SztrihaEmma GlamuzinaSerge B MelançonSakkubai NaiduJean-Marc RetrouveySuzanne LacombeBeatriz Bernardino-CuestaIsabelle De BieGeneviève Bernard

Published in: Journal of medical genetics (2023)

Keyphrases

copy number
intellectual disability
gene expression
genome wide