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248300.G.3
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Subject Details
Country
Algeria
HPO Terms
Palmoplantar keratoderma; Hyperkeratosis
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020427.3:c.178+1G>A
6
Mal de Meleda
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Remarks
3 patients from 3 unrelated Algerian families
References
Fischer et al. 1998;
Bouadjar et al. 2000;
Fischer et al. 2001
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