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8 Cards in this Set
- Front
- Back
- 3rd side (hint)
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AEC syndrome (Hay Wells)
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AD, P63 (p63 protein)
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erosive scalp dermatitis, 80% cleft lip, ankyloblepharon, hypotrichosis
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Acrodermatitis enteropathica
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AR, SLC39A4
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scaly eczematous plaques over the perioral, perineal, and acral areas
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Albinism, OCA 1
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AR, TYR (tyrosinase)
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severe nystagmus, inc SCC risk, pink nevi
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Albinism, OCA 2
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AR, P (P protein)
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nystagmus, light brown hair, pigmented nevi
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Albinism, OCA 3
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AR, TRP-1 (tyrosine related protein)
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nystagmus, blue/brown iris, light brown hair/skin
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Albright Hereditary Osteodystrophy
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AD, GNAS1 (encodes alpha subunit for stimulatory G protein of adenylate cyclase: Gs)
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pseudohypoparathyroidism, short stature, shortened 4th metacarpal, soft tissue calcification and ossification (ie osteoma cutis)
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specialized sebaceous glands
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Tyson, Wolf, Meibomian, Fordyce
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penis, eyelid, eyelid, vermilion/oral
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modified apocrine gland
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Moll
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eyelid
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