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|Title:||Conradi-Hünermann-Happle syndrome with minimal signs.|
|Abstract:||A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.|
|Appears in Collections:||Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos|
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