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Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 |
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| Authors: | Gary A. Bellus Michael J. Bamshad Kelly A. Przylepa John Dorst Roland R. Lee Orest Hurko Ethylin W. Jabs Cynthia J.R. Curry William R. Wilcox Ralph S. Lachman David L. Rimoin Clair A. Francomano |
| Affiliation: | Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah |
| Abstract: | |
| Keywords: | FGFR3 dwarfism mental retardation skin skeletal brain dysplasia |