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Thanatophoric dysplasia

โœ Scribed by L. E. Machado; F. Bonilla-Musoles; Prof N. G. Osborne


Book ID
114434888
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
45 KB
Volume
18
Category
Article
ISSN
0960-7692

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๐Ÿ“œ SIMILAR VOLUMES


Thanatophoric Dysplasia
โœ Takuji Tanaka; Akiyoshi Nishikawa; Seiji Yamaguchi; Tetsuhiko Taguchi; Shigeyuki ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 808 KB
Thanatophoric dysplasia and cloverleaf s
โœ Langer, Leonard O. ;Yang, S. Samuel ;Hall, Judith G. ;Sommer, Annemarie ;Kottama ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 983 KB

Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral

Thanatophoric dysplasia of identical twi
โœ Serville, Francoise ;Carles, Dominique ;Maroteaux, Pierre ;Opitz, John M. ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 173 KB
Growth and development in thanatophoric
โœ MacDonald, Ian M. ;Hunter, Alasdair G. W. ;MacLeod, Patrick M. ;MacMurray, S. Br ๐Ÿ“‚ Article ๐Ÿ“… 1989 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 559 KB
Thanatophoric dysplasia type I with synd
โœ Brodie, Steven G.; Kitoh, Hiroshi; Lipson, Mark; Sifry-Platt, Mara; Wilcox, Will ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 11 KB ๐Ÿ‘ 1 views

We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs