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Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

✍ Scribed by H. Fassihi; V. Wessagowit; G. H. S. Ashton; C. Moss; R. Ward; J. Denyer; J. E. Mellerio; J. A. McGrath


Book ID
108693148
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
159 KB
Volume
30
Category
Article
ISSN
0307-6938

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## Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN‐γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and gene