Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity.

Source: BMC Medical Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown and Hamish S. Scott Tags: Research article Source Type: research