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COWDEN SYNDROME [1 record]

Record 1 2019-02-13

English

Subject field(s)
  • Human Diseases
  • Genetics
DEF

An autosomal dominant disorder ... comprising a combination of ectodermal, mesodermal, and endodermal anomalies, ... characterized by development of multiple hamartomatous lesions, especially in the skin, oral mucosa, breast, thyroid, colon, and intestins, and ... associated with a high incidence of malignancies in the organs involved.

CONT

Cowden syndrome is caused by a mutation in the PTEN tumour suppressor gene.

French

Domaine(s)
  • Maladies humaines
  • Génétique
DEF

Maladie systémique, à la fois cutanée et viscérale, associant aux lésions cutaneo-muqueuses (avant tout papuleuses) très caractéristiques, des multiples manifestations viscérales, notamment mammaires, thyroïdiennes, digestives, ovariennes et squelettales.

CONT

Le syndrome de Cowden est causé par une mutation du gène PTEN, un gène suppresseur de tumeur.

Spanish

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