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ENBart-Pumphrey Syndrome (BAPS)
Alias:
Knuckle Pads, Leukonychia, and Sensorineural Deafness
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome
Knuckle Pads, Deafness and Leukonychia Syndrome
Baps
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Synd
Knuckle Pads, Leuconychia and Sensorineural Deafness
Knuckle Pads, Deafness, and Leukonychia Syndrome
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Bart-Pumphrey Syndrome, also known as knuckle pads, leukonychia, and sensorineural deafness, is related to keratoderma, palmoplantar, with deafness and palmoplantar keratosis. An important gene associated with Bart-Pumphrey Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-protein signaling G-Protein alpha-i signaling cascades. Affiliated tissues include skin and pancreas, and related phenotypes are congenital sensorineural hearing impairment and leukonychia
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