Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
Ingrid Anne Mandy Schierz, Gregorio Serra, Vincenzo Antona, Ivana Persico, Giovanni Corsello, Ettore Piro
Abstract
Crisponi Syndrome is a developmental disorder
Topics & Concepts
MedicineLoss of heterozygosityCompound heterozygosityPediatricsGeneticsPhenotypeGeneAlleleBiologyNeurogenetic and Muscular Disorders ResearchCytokine Signaling Pathways and Interactionsinterferon and immune responses