Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies
Brief Summary:
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.
The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.