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PYCNODYSOSTOSIS [1 record]

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Record 1 1997-08-26

English

Subject field(s)
  • Bones and Joints
CONT

Pycnodysostosis, a hereditary form of dwarfism, is also a rare disease, occurring in fewer than 1 out of 100,000 people... [Chromosome 1] appears to play a pivotal role in the function of the osteoclasts, cells that continuously dissolve bone and regenerate it; when the gene is mutated, bones become abnormally thick, fragile, and liable to fracture. Other symptoms of the disease include an open fontanel, or soft, unfused spot on the skull, short fingers and toes, and a receding chin.

French

Domaine(s)
  • Os et articulations
DEF

[...] maladie osseuse qui entraîne une déformation du squelette.

OBS

[...] la maladie serait liée au gène de la cathepsine K.

Spanish

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