Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33989/fullpdf
Reference18 articles.
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2. Development of a WHO growth reference for school-aged children and adolescents;de Onis;Bull World Health Organ,2007
3. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia;D'Angelo;Am J Med Genet Part A,2010
4. Possible genomic imprinting of three human obesity-related genetic loci;Dong;Am J Hum Genet,2005
5. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. 2007;Donnarumma;Hum Mutat,2007
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2. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease;Genes;2021-09-29
3. Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome;Frontiers in Pediatrics;2021-03-19
4. Genetic Causes of Craniosynostosis: An Update;Molecular Syndromology;2018-08-15
5. Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences;Expert Opinion on Drug Discovery;2016-03-22
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