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Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. 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. Am J Med Genet. 1999 Jul 2;85(1):53-65.
Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. Review.
Kumar KV, Shaikh A, Sharma R, Prusty P. SADDAN syndrome. J Pediatr Endocrinol Metab. 2011;24(9-10):851-2.
Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review.
Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A. 2008 Jan 15;146A(2):212-8.
: October 2012
: January 27, 2015
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