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Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.Clinical Dysmorphology|August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six casesM M Lees, P Hodgkins, W Reardon, et al.American Journal of Medical Genetics|July 1, 1994
Six cases of 7p deletion: clinical, cytogenetic, and molecular studiesK A Chotai, L A Brueton, L van Herwerden, et al.American Journal of Medical Genetics|February 5, 1998
Clinical phenotype of desmosterolosisD R FitzPatrick, J W Keeling, M J Evans, et al.American Journal of Human Genetics|November 1, 1994
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palateH Feng, R Sassani, S P Bartlett, et al.European Journal of Pediatrics|December 14, 1999
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two familiesJ Wang, L Spitz, R Hayward, et al.The Journal of Clinical Endocrinology and Metabolism|July 10, 2001
Mutational analysis in X-linked spondyloepiphyseal dysplasia tardaP T Christie, A Curley, M A Nesbit, et al.Human Molecular Genetics|June 1, 1995
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndromeM Oldridge, A O Wilkie, S F Slaney, et al.European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.Human Molecular Genetics|December 6, 2001
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophyV Viprakasit, R J Gibbons, B C Broughton, et al.Pageof 23