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

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001005937	Raw Whole Exome Sequencing data from Blood samples drawn from related Female participants presenting severe congenital neutropenia.	Illumina HiSeq 2500	2

Publications	Citations
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss. Venugopal P, Gagliardi L, Forsyth C, Feng J, Phillips K, Babic M, Poplawski NK, Rienhoff HY, Schreiber AW, Hahn CN, Brown AL, Scott HS. BMC Med Genet 21: 2020 35	2