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Clinical Dysmorphology|January 11, 2001
Ischiospinal dysostosis with rib gaps and nephroblastomatosisJ Spranger, S Self, K B Clarkson, et al.American Journal of Medical Genetics. Part A|August 19, 2003
Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?A Rajab, M Khaburi, S Spranger, et al.Pediatric Radiology|January 1, 1994
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasiaJ Spranger, H Menger, S Mundlos, et al.Klinische Padiatrie|November 1, 1975
[Congenital spondylo-epiphyseal dysplasia: follow-up of a case over 9 years (author's transl)]T Luthardt, H Reinwein, H Schönenberg, et al.Archives of Gynecology and Obstetrics|August 29, 2002
Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)A Queisser-Luft, G Stolz, A Wiesel, et al.European Journal of Pediatrics|June 1, 1983
Heterogeneity of metatropic dysplasiaM Beck, M Roubicek, J G Rogers, et al.Journal of Inherited Metabolic Disease|January 1, 1981
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristicsJ Gehler, A C Sewell, C Becker, et al.Helvetica Paediatrica Acta|January 1, 1981
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian familyJ Gehler, A C Sewell, C Becker, et al.Prenatal Diagnosis|December 13, 2000
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinityL C Horn, R Faber, A Meiner, et al.Calcified Tissue International|January 1, 1992
Osteogenesis imperfecta: a clinical study of the first ten years of lifeU Vetter, B Pontz, E Zauner, et al.Pageof 20