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Paper Details

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
5
2022
CKAP4, CLIMP-63, ER-, LBR, NOGO, Pelger-Hut anomaly, RTN4, TMCO1 translocon, TMEM147, TMEM147 loss-of-function variants, TMEM147-deficient, TMEM147-deficient cells, amino acid, children, chromatin, coarse facies, developmental delay, facial dysmorphism, intellectual disability, lamin B receptor, neurodevelopmental genes, neutrophils, nonsense, primary fibroblast cell culture, primary fibroblast cells, pseudo-Pelger-Hut anomaly, syndromic intellectual disability
Author NameAffiliation
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt Armed Forces College of Medicine
Siddharth BankaUniversity of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust
Joseph G GleesonUniversity of California, USA Rady Children's Institute for Genomic Medicine
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Marco TartagliaIRCCS
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