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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. Yang CS, et al. Among authors: antaya rj. Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20. Pediatr Dermatol. 2012. PMID: 22515571 Free PMC article.
Two cases of isolated anterior cervical hypertrichosis.
Reddy S 4th, Antaya RJ. Reddy S 4th, et al. Among authors: antaya rj. Pediatr Dermatol. 2010 Sep-Oct;27(5):531-3. doi: 10.1111/j.1525-1470.2010.01269.x. Epub 2010 Aug 26. Pediatr Dermatol. 2010. PMID: 20796240
109 results