Bi-allelic Loss-of-function Variants in TMEM147 Cause Moderate to Profound Intellectual Disability with Facial Dysmorphism and pseudo-Pelger-HuEt AnomalyQuentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S. Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon2022PDF4.6 MB