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Article

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

American journal of medical genetics. Part A - 1 Nov 2015

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

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Share to Chromosome Deletion
Share to Genes, Recessive
Share to Infant, Newborn
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mucolipidoses

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Identifiers

PMID: 26108976
DOI: 10.1002/ajmg.a.37213
PMCID: PMC4708255

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