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skeletal involvement in joubert syndrome from low bone mineral density to severe secondary osteoporosis
Original title: “Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis.”
case of joubert syndrome and npc1 mutation in a 7 year old girl presented with neuromotor developmental delay and ataxia
Original title: “A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.”