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Article
Open AccessAdult gaucher disease in southern Tunisia: report of three cases
Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually di...
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Article
BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report
Breast cancer is currently the leading cause of cancer morbidity and mortality among Algerian women. In this study, we aimed to investigate the mutation spectrum of BRCA1 and BRCA2 genes in hereditary breast/ovar...
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Article
Correction to: BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report
The original version of this article unfortunately contained an error in the abstract section and Figure 2h image.
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Living Reference Work Entry In depth
Genodermatoses
Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...
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Living Reference Work Entry In depth
Disorders of Keratinization
Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...
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Reference Work Entry In depth
Disorders of Keratinization
Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteris...
-
Reference Work Entry In depth
Genodermatoses
Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and dis...