Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation-Reference-Cited by-同舟云学术

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

Published:2015-06-24 Issue:11 Volume:167 Page:2844-2846
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barea Jaime J.¹²,van Meel Eline³,Kornfeld Stuart³,Bird Lynne M.¹²

Affiliation:

1. Department of Pediatrics; University of California; San Diego California

2. Division of Dysmorphology/Genetics; Rady Children's Specialists of San Diego; San Diego California

3. Department of Internal Medicine; Washington University School of Medicine; St. Louis Missouri

Funder

National Institutes of Health

The Yash Gandhi Foundation Stuart Kornfeld

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Deletions that reveal recessive genes;Coman;Eur J Hum Genet,2007

2. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment;Del Fattore;J Med Genet,2006

3. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype;Hatchwell;J Med Genet,1996

4. Discovery of variants unmasked by hemizygous deletions;Hochstenbach;Eur J Hum Genet,2012

5. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant;Laass;Pediatr Nephrol,2004

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations;Human Mutation;2019-04-13

2. Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells;Molecular & Cellular Proteomics;2018-08

3. Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients;Gene;2018-02

4. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase;Human Mutation;2016-04-22

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