Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation

Author(s):: Barea, J.J.; Meel, H.M.M. van; Kornfeld, S.; Bird, L.M.

Published: 2015
Publication type: Article / Letter to editor

Date issued: 2015-11-30
Language: English
Is part of
hdl: 1887/3198273
doi: 10.1002/ajmg.a.37213