fig1

A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years

Figure 1. Clinical photos and pedigree of patients in this case report. A: patient 1 - extensive skin desquamation and erosions, particularly overpressure regions such as the site of blood pressure cuff; B: patient 2 - generalized skin xerosis with atrophic changes, dystrophic nails and patches of erosion; C: pedigree of patient 2.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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