Is your kid actin out? A series of six patients with inherited ARPC1B deficiency and review of the literature

CONCLUSION: ARPC1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 is shared by three unrelated families and might be the result of a founder effect.PMID:36708766 | DOI:10.1016/j.jaip.2022.12.045

Source: Clinical Lung Cancer - January 28, 2023 Category: Cancer & Oncology Authors: Estefan ía Vásquez-Echeverri Marco Antonio Yamazaki-Nakashimada Edna Venegas Montoya Selma Cecilia Scheffler Mendoza Lina Maria Castano-Jaramillo Edgar Alejandro Medina-Torres Maria Edith Gonz ález-Serrano Melissa Espinosa-Navarro Juan Carlos Bustamant Source Type: research