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May 19, 2024 | Dermatology | University Hospital Lübeck, University Hospital Rostock To define the morphologic pattern of pediatric hand burns as visualized via optical coherence tomography (OCT) and dynamic OCT (D-OCT). We designed a scoring system to assess the depths of burn wounds on pediatric hands and tested this score in our cohort of children with burn injuries to the hand. Overall, 67 hand burns in 48 children (0–15 years) were prospectively examined.
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.
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