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The Schwartz-Jampel syndrome
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Genetic heterogeneity in Schwartz-Jampel syndrome: Two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1
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Brown KA, Al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF (1997). Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. J Med Genet 34:685-687.
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Characterization of a longterm survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome
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Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
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Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M (1998). Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 78(2):146-149.
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Long term survoval in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with prominent neurovegetative features
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Di Rocco m, Stella G, Bruno C, Lamba L, Bado M, Superti-Furga A (2002). Long term survoval in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with prominent neurovegetative features. Am J Med Genet (In press).
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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
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Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A (1997). Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 166(3):214-223.
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Stuve-Wiedemann dysplasia in a 3 1/2-year-old boy
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Spectrum of Schwartz-Jampel syndrome include micromelic chondrodysplasia, Kyphomelic dysplasia and Burton disease
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Spranger J, Hall BD, Hane B, Srivastava Re (2000). Spectrum of SchwartzJampel syndrome include micromelic chondrodysplasia, Kyphomelic dysplasia and Burton disease. Am J Med Genet 94:287-295.
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Congenital bowing of the long bones in two sisters
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The surgical management of children with familial dysautonomia
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