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enchondromatosis

 
osteochondromatosis, dyschondroplasia, Ollier's disease

Synopsis:

-  cartilagenous tumours (bone, trachea)

-  asymmetric tubular bone abnormality

-  ovarian juvenile granulosa cell tumor (precocious pseudopuberty)

Etiology:

-  mutation in the PTH/PTHRP type I receptor (PTHR1; MIM.168468). The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (MIM.168470)


Osteochondroma

Osteochondroma

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