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Paper Details

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
BMC Med Genet
2
2020
GFI1, MYO6, SCN, congenital neutropenia, hearing, human, monocytosis, monogenic disorders, non-syndromic sensorineural hearing loss, severe congenital neutropenia, syndromic disorder, targeted gene panel
Author NameAffiliation
Kerry PhillipsRoyal Adelaide Hospital
Kerry PhillipsRoyal Adelaide Hospital
Nicola K PoplawskiRoyal Adelaide Hospital
Nicola K PoplawskiRoyal Adelaide Hospital
Anna L Brown
Anna L Brownan alliance between SA Pathology and the University of South Australia
Anna L BrownSchool of Pharmacy and Medical Sciences, University of South Australia
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Release 1.2