Gorlin syndrome
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Keratocysts of the jaw, hyperkeratosis of palm and soles, basal cell carcinomas, skeleton abnormalities, macrocephaly, frontal bossing
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PTCH1
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Basal cell carcinomas, medullablastoma
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Multiple endocrine neoplasia type 2B
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Mucosal neuromas of the lips an tongue, medullated corneal nerve fibers, distinctive facies with enlarged lips and tongue, an asthenic “marfarnoid habitus, and medullary thyroid cancer.
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RET
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Medullary thyroid cancer, pheochromocytoma
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Neurofibromatosis type 1
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Café au lait spots, axillary and inguinal freckling, and neurofibromas.
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NF1
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Optic gliomas, malignant peripherical nerve sheath tumours, breast
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Birt-Hogg-Dubé |
Skin fibrofolliculomas, spontaneous pneumothorax |
FLCN |
Renal |