Rubén Martínez‐Barricarte

Facial Phenotypic Pattern in Severe Congenital Neutropenia Type 4 (G6PC3 Deficiency): Description and Clinical Value

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Patients with mutations in G6PC3 suffer from congenital neutropenia and additional complex developmental abnormalit...