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Peutz-Jeghers Syndrome

More information in Books or onNLM PubMed
Definition: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.      Other names Lentiginosis, Perioral; Syndromes, Polyps-and-Spots; Syndromes, Periorificial Lentiginosis; Syndrome, Polyps-and-Spots; Syndrome, Peutz-Jeghers; Syndrome, Peutz-Jegher's; Syndrome, Periorificial Lentiginosis; Polyps-and-Spots Syndromes; Polyps and Spots Syndrome; Polyposis, Peutz-Jeghers; Polyposes, Hamartomatous Intestinal; Peutz-Jegher Syndrome; Peutz Jeghers Syndrome; Peutz Jeghers Polyposis; Peutz Jegher's Syndrome; Periorificial Lentiginosis Syndromes; Perioral Lentiginosis; Perioral Lentiginoses; Lentiginoses, Perioral; Intestinal Polyposis, Hamartomatous
 
SubstanceCAS Registry & nameCategoriesSource
Stk11 protein, mouse  EC 2.7.1.-   *Protein-Serine-Threonine Kinases Peutz-Jeghers Syndrome.
STK11 protein, human  EC 2.7.1.-   *Protein-Serine-Threonine Kinases Peutz-Jeghers Syndrome. Nature 1998 Jan 8;391(6663):184-7

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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