Somatic Mutations in Overgrowth Syndromes

Sep 18, 2016 by in ORTHOPEDIC Comments Off on Somatic Mutations in Overgrowth Syndromes

Fig. 9.1 Timing and Genetic Consequence of de novo Mutations De novo mutation may occur at any time during embryonic development, ranging from prior to fertilization to after birth. Mutations…

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Classification and Etiologic Dissection of Vertebral Segmentation Anomalies

Sep 18, 2016 by in ORTHOPEDIC Comments Off on Classification and Etiologic Dissection of Vertebral Segmentation Anomalies

Syndromes/disorders OMIM Gene Acrofacial dysostosisa 263750  Alagille syndrome 118450 JAG1, NOTCH2 Anhalta 601344  Atelosteogenesis III 108721 FLNB Campomelic dysplasia 211970 SOX9 Casamassima-Morton-Nancea 271520  Caudal regressiona 182940  Cerebro-facio-thoracic dysplasiaa 213980  CHARGE…

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Neurofibromin in Skeletal Development

Sep 18, 2016 by in ORTHOPEDIC Comments Off on Neurofibromin in Skeletal Development

Fig. 2.1 Bone development cartoon (reprinted from publication title: Transcriptional mechanisms in osteoblast differentiation and bone formation. Trends in Genetics Volume 19, Issue 8, August 2003, Page 459, with permission…

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DMP-1 in Postnatal Bone Development

Sep 18, 2016 by in ORTHOPEDIC Comments Off on DMP-1 in Postnatal Bone Development

Fig. 4.1 Schematic structure of DMP1 protein, gene and ARHR mutrations. a Schematic structure of the human DMP1 gene and ARHR mutations. DMP1 is composed of six exons. Because of…

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The Genetic Architecture of Idiopathic Scoliosis

Sep 18, 2016 by in ORTHOPEDIC Comments Off on The Genetic Architecture of Idiopathic Scoliosis

Fig. 5.1 Patient with idiopathic scoliosis. Curvature of the spine to the right with should imbalance is evident in the picture on the left. Standing postero-anterior spinal radiograph reveals severe…

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Insights into the Genetics of Clubfoot

Sep 18, 2016 by in ORTHOPEDIC Comments Off on Insights into the Genetics of Clubfoot

Fig. 6.1 Dorsal and plantar views of clubfoot Treatment The two most common nonsurgical approaches in current use are the Ponseti and Montpellier (French or functional) methods, which both promote…

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