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Large Deletion of mtDNA Presenting as Fanconi Syndrome


Book ID
122030357
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
129 KB
Volume
61
Category
Article
ISSN
0272-6386

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Patient with large 17p11.2 deletion pres
โœ Natacci, F. ;Corrado, L. ;Pierri, M. ;Rossetti, M. ;Zuccarini, C. ;Riva, P. ;Mio ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 612 KB

We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas