Benign Familial Pemphigus in Skin of Color.
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DOI: 10.1001/jamadermatol.2022.5117
Abstract: This case report describes friable erythematous plaques on the neck, inguinal folds, buttocks, bilateral axillae, and bilateral antecubital fossae. read more here.
Keywords: skin color; dermatology; pemphigus skin; benign familial ... See more keywords
Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia
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DOI: 10.1136/jmedgenet-2017-104964
Abstract: Background A genetic diagnosis has been rarely performed in benign familial hyperphosphatasaemia, and molecular mechanism largely remains unclear. Objectives We encountered a case with benign familial hyperphosphatasaemia of intestinal alkaline phosphatase (IAP). To elucidate the… read more here.
Keywords: benign familial; iap; familial hyperphosphatasaemia; intestinal alkaline ... See more keywords
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family
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DOI: 10.1159/000488163
Abstract: Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal… read more here.
Keywords: col4a3 col4a4; benign familial; familial hematuria;