Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005304015278/fullpdf
Reference4 articles.
1. Mitochondrial encephalomyopathies;DiMauro;Ann Neurol,1993
2. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions;Johns;Proc Natl Acad Sci USA,1989
3. Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome;Niaudet;Pediatr Nephrol,1994
4. Deletions of mitochondrial DNA in a case of early onset diabetes mellitus optic atrophy and deafness (DIDMOAD, Wolfram syndrome);Rotig;J Clin Invest,1993
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1. Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review;Pediatric Neurology;2024-04
2. Decreased mitochondrial DNA copy number in children with cerebral palsy quantified by droplet digital PCR;Clinica Chimica Acta;2020-04
3. Growth-hormone deficiency in mitochondrial disorders;Journal of Pediatric Endocrinology and Metabolism;2017-01-01
4. Mitochondrial disease and endocrine dysfunction;Nature Reviews Endocrinology;2016-10-07
5. Large Mitochondrial DNA Deletion in an Infant with Addison Disease;JIMD Reports;2011
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