Bi-allelic Loss-of-function Variants in TMEM147 Cause Moderate to Profound Intellectual Disability with Facial Dysmorphism and Pseudo-Pelger-huët Anomaly

Quentin Thomas,Marialetizia Motta,Thierry Gautier,Maha S. Zaki,Andrea Ciolfi, Julien Paccaud,Francois Girodon,Odile Boespflug-Tanguy,Thomas Besnard,Jennifer Kerkhof,Haley McConkey, Aymeric Masson,Anne-Sophie Denomme-Pichon,Benjamin Cogne,Eva Trochu,Virginie Vignard,Fatima El It,Lance H. Rodan, Mohammad Ayman Alkhateeb,Rami Abou Jamra,Laurence Duplomb,Emilie Tisserant,Yannis Duffourd,Ange-Line Bruel,Adam Jackson,Siddharth Banka,Meriel McEntagart,Anand Saggar,Joseph G. Gleeson,David Sievert,Hyunwoo Bae,Beom Hee Lee,Kisang Kwon,Go Hun Seo,Hane Lee,Anjum Saeed,Nadeem Anjum,Huma Cheema,Salem Alawbathani, Imran Khan,Jorge Pinto-Basto, Joyce Teoh,Jasmine Wong,Umar Bin Mohamad Sahari,Henry Houlden,Kristina Zhelcheska,Melanie Pannetier, Mona A. Awad,Marion Lesieur-Sebellin,Giulia Barcia,Jeanne Amiel,Julian Delanne,Christophe Philippe,Laurence Faivre,Sylvie Odent,Aida Bertoli-Avella,Christel Thauvin,Bekim Sadikovic,Bruno Reversade,Reza Maroofian,Jerome Govin,Marco Tartaglia,Antonio Vitobello

The American Journal of Human Genetics（2022）

引用 6|浏览57

关键词

TMEM147,LBR,nuclear envelope instability,Pelger-Huët anomaly,translocon dysfunction,neurodevelopmental disorder,intellectual disability,facial dysmorphism,DNA methylation,transcriptomics

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