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Thanatophoric dysplasia of the straight-bone type (type 2).
Regional Genetic Service, St Mary's Hospital, Manchester, UK.
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.
PMID: 1345514 [PubMed - indexed for MEDLINE]
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Cited by 1 PubMed Central article
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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, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, et al.
Am J Hum Genet. 1999 Mar; 64(3):722-31.
[Am J Hum Genet. 1999]