Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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wetenschappelijk artikel

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наукова стаття, опублікована в грудні 2018

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

@nl

P1476

Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

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P2093

Dianqing Wu

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Elizabeth Sanchez Rangel

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Karl Insogna

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Kathleen Ang

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Qianying Yuan

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Thomas O Carpenter

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P2860

Mutations in WNT1 cause different forms of bone fragility

Distinct modes of inhibition by sclerostin on bone morphogenetic protein and Wnt signaling pathways

Romosozumab Treatment in Postmenopausal Women with Osteoporosis

WNT signaling in bone homeostasis and disease: from human mutations to treatments

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Wnt signaling in bone formation and its therapeutic potential for bone diseases.

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Alternative wnt signaling is initiated by distinct receptors.

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

P304

154-158

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P31

scholarly article

case report

P356

10.1016/J.BONR.2018.09.001

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P407

English

P478

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P577

2018-12-01T00:00:00Z

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P698

30364642

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P932

6197702

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