Severe congenital neutropenia type 4: a rare disease harboring a G6pc3 gene pathogenic variant particular to the mexican population

• Main Authors: Larissa López-Rodríguez (Author), Yevgeniya Svyryd (Author), Edmar O. Benítez-Alonso (Author), Pamela Rivero-García (Author), Leonora Luna-Muñoz (Author), Osvaldo M. Mutchinick (Author)
• Format: Book
• Published: Permanyer, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by G6PC3 gene pathogenic variants. The estimated prevalence is 1/10,000,000 people. Over 90% of patients present a syndromic form with variable multisystemic involvement, including co...