TY - JOUR AU - Fernandez, Bridget A. AU - Green, Jane S. AU - Bursey, Ford AU - Barrett, Brendan AU - MacMillan, Andrée AU - McColl, Sarah AU - Fernandez, Sara AU - Rahman, Proton AU - Mahoney, Krista AU - Pereira, Sergio L. AU - Scherer, Stephen W. AU - Boycott, Kym M. AU - Woods, Michael O. AU - FORGE Canada Consortium PY - 2012 DA - 2012/11/21 TI - Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype JO - BMC Medical Genetics SP - 111 VL - 13 IS - 1 AB - 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). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-13-111 DO - 10.1186/1471-2350-13-111 ID - Fernandez2012 ER -