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

Autor: Venugopal, Parvathy1,2 (AUTHOR), Gagliardi, Lucia1,2,3,4,5 (AUTHOR), Forsyth, Cecily6 (AUTHOR), Feng, Jinghua7,8 (AUTHOR), Phillips, Kerry9 (AUTHOR), Babic, Milena1,2 (AUTHOR), Poplawski, Nicola K.9 (AUTHOR), Rienhoff, Hugh Young10 (AUTHOR), Schreiber, Andreas W.2,7,8,11 (AUTHOR), Hahn, Christopher N.1,2,3,8 (AUTHOR), Brown, Anna L.1,2,8 (AUTHOR), Scott, Hamish S.1,2,3,7,8 (AUTHOR) hamish.scott@sa.gov.au
Zdroj: BMC Medical Genetics. 2/17/2020, Vol. 21 Issue 1, p1-5. 5p.
Databáze: Academic Search Ultimate
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