Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of...
Peutz–Jeghers syndrome Heymann WR. J Am Acad Dermatol 2007; 57: 513–4. A synopsis of the syndrome correlating molecular advances with the cutaneous, malignant, and endocrinologic features of the disorder. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome Lim ...
inheritance.Itis anaturalmodelto study the relationship betweendiseaseand gene.There arelotsof monogenic diseasesthatthreatenedtohumanhealth.Itis necessary toexcavate the genetic diseaseresourcesand carry outtherelevant study. Peutz-Jegherssyndrome(PJS)is ...
Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps an... I. P. M. Tomlinson,R.S. Houlston - 《Vestnik Khirurgii Imeni I.i.grekova》 被引量: 946发表: 1981年 Femini...
The present study is the first register of patients with Peutz-Jeghers syndrome in Valencia, Spain. The ICD-9 code is nonspecific for rare diseases. The duodenum was the most frequent location for polyps and the majority of cases presented with intestinal invagination, bowel obstruction, and urgen...
Jeghers et al. [4], from Boston USA, described ten further cases in 1949 with these clinical features, but noted that the family connection corresponded to simple Mendelian dominant inheritance. Peutz-Jeghers syndrome is characterised by abnormal facial pigmentation, intestinal polyposis and frequently...
Peutz-Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31-p32, 6q25 and 6p11-cen. At the first ...
The eponym Peutz Jeghers syndrome was originally put forward in 1954 by Bruwer et al. who based the name on the work of Peutz, who described a family with autosomal dominant inheritance of gastrointestinal polyposis and pigmented mucous membranes, and Jeghers who defined the coexistence of ...
PeutzâJeghers syndromesmall bowel intussusceptionsolitary hamartomatous polypPeutzJeghers syndrome (PJS) is characterized by mucocutaneous pigmentation with multiple hamartomatous polyps of the gastrointestinal tract and/or a familial history with autosomal dominant inheritance patter...
Peutz-Jeghers Syndrome is an extremely rare genetic disorder with an autosomal dominant inheritance pattern. It is characterized by multiple hamartomatous polyps throughout the GI tract, characteristic skin pigmentation, and increased risk of both GI and extraintestinal malignancies. Disease severity can ...