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Displasia fibrosa poliostótica
Es una enfermedad genética que afecta los huesos y el color (pigmentación) de la piel.
El síndrome de McCune-Albright es causado por mutaciones en el gen GNAS1. El gen anormal está presente en una fracción, pero no en todas las células del paciente (mosaicismo).
Esta enfermedad no es hereditaria. Es causada por un nuevo cambio (mutación) en el ADN que ocurre en el útero mientras el bebé se está desarrollando. Esta mutación no se le transmite a ninguno de los hijos de la persona.
Garibaldi L. Disorders of pubertal development. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 563.
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