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Clinical Dysmorphology|July 1, 1997
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopiaY Hilhorst-Hofstee, P M Watkin, C M Hall, et al.Clinical Genetics|December 1, 1981
Intrafamilial correlation in Friedreich's ataxiaR M Winter, A E Harding, M Baraitser, et al.American Journal of Medical Genetics|September 1, 1990
Midline facial defects with ocular colobomataI K Temple, H Brunner, B Jones, et al.Journal of Medical Genetics|June 1, 1986
Tel Hashomer camptodactyly syndrome: report of a case with myopathic featuresM A Patton, K D McDermot, B D Lake, et al.European Journal of Pediatrics|December 1, 1992
Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumourR G Grundy, J Pritchard, M Baraitser, et al.American Journal of Human Genetics|October 1, 1992
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosisS Strautnieks, P Rutland, R M Winter, et al.Journal of Medical Genetics|December 1, 1990
Two brothers with heart defects and limb shortening: case reports and reviewW Reardon, J Hurst, T I Farag, et al.American Journal of Medical Genetics|May 1, 1987
Proteus syndrome: an expanded phenotypeR D Clark, D Donnai, J Rogers, et al.Clinical Dysmorphology|July 1, 1993
An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delayL S Chitty, C M Hall, P J Webb, et al.Pageof 19