This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co...