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Pediatric Nephrology (Berlin, Germany)|April 1, 1999
Hypercalciuria and urolithiasis in a case of Costello syndromeF K Assadi, C I Scott, C P McKay, et al.
Neurosurgery|April 1, 1992
Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic formsG A Mandell, H T Harcke, C I Scott, et al.
Skeletal Radiology|January 1, 1989
Identification of avascular necrosis in the dysplastic proximal femoral epiphysisG A Mandell, W G MacKenzie, C I Scott, et al.
American Journal of Human Genetics|February 1, 1995
Achondroplasia is defined by recurrent G380R mutations of FGFR3G A Bellus, T W Hefferon, R I Ortiz de Luna, et al.
American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the USD K Waller, A Correa, Tuan M Vo, et al.
Nature Genetics|July 1, 1995
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaJ T Hecht, L D Nelson, E Crowder, et al.
Birth Defects Original Article Series|January 1, 1977
Grebe chondrodysplasia and similar forms of severe short-limbed dwarfismG Romeo, J Zonana, R S Lachman, et al.
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