Citations for
1FGFR3, SADDAN
SADDAN syndrome.
Kumar KV, Shaikh A, Sharma R, Prusty P.
J Pediatr Endocrinol Metab 24(9-10):851-2. 2011
2FGFR3, SADDAN
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.
Am J Med Genet A 146A(2):212-8. 2008
3FGFR3, SADDAN
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL, et al.
Am J Hum Genet 64(3):722-31. 1999
4FGFR3, SADDAN
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.
Bellus GA, et al.
Am J Med Genet 85(1):53-65 1999
5ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
Hehr U, et al.
Mol Genet Metab 68(2):139-151. No abstract available 1999