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MARFANS SYNDROME [1 record]

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Record 1 2010-08-06

English

Subject field(s)
  • Genetics
CONT

An inheritable disorder that affects the skeletal system, cardiovascular system, eyes, and to some extent the central nervous system.

OBS

Marfan's syndrome is inherited as an autosomal dominant trait. Marfan's syndrome may appear in previously unaffected families as a spontaneous new mutation. The incidence is approximately 1 out of 10,000 people.

French

Domaine(s)
  • Génétique
CONT

On sait que le syndrome de Marfan est principalement dû à des mutations dans le gène FNBN1, aujourd'hui entièrement séquencé, qui code la fibrille de type 1. C'est la déficience en cette glycoprotéine, présente dans tous les tissus de l'organisme, qui entraîne chez les malades, des symptômes divers [...]

Spanish

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