Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome. |
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| Authors: | S Nakar A Ingber I Kremer E Hodak B Z Garty E Ben-David M David M Shohat |
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| Affiliation: | Department of Family Medicine, Beilinson Medical Center, Petah Tiqva, Israel. |
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| Abstract: | We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa. |
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