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

Jaime J. Barea, Eline van Meel, Stuart Kornfeld, Lynne M. Bird

Research output: Contribution to journalLetter

4 Scopus citations
Original languageEnglish
Pages (from-to)2844-2846
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
StatePublished - Nov 2015

Cite this