Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C

Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was...

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Veröffentlicht in:	Human mutation 2004-12, Vol.24 (6), p.466-473
Hauptverfasser:	Rozeman, Leida B., Sangiorgi, Luca, Bruijn, Inge H. Briaire-de, Mainil-Varlet, Pierre, Bertoni, F., Cleton-Jansen, Anne Marie, Hogendoorn, Pancras C.W., Bovée, Judith V.M.G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Bone Neoplasms - genetics Child chondrosarcoma Chondrosarcoma - genetics DNA Mutational Analysis enchondromatosis Enchondromatosis - genetics Female Heparan sulfate Humans Immunohistochemistry Maffucci syndrome Male Middle Aged Molecular Sequence Data Mutation Ollier disease Orthopedics Pathology Patients Point Mutation Polymerase Chain Reaction PTHR1 Receptor, Parathyroid Hormone, Type 1 - genetics Sequence Analysis, DNA
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