Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

2001 ◽  
Vol 104 (4) ◽  
pp. 277-281 ◽  
Author(s):  
Gianni Camera ◽  
Maurizia Baldi ◽  
Giuseppe Strisciuglio ◽  
Daniela Concolino ◽  
Pierpaolo Mastroiacovo ◽  
...  
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia

Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

2005 ◽  
Vol 25 (5) ◽  
pp. 426-428 ◽  
Author(s):  
Pierangela De Biasio ◽  
Irina Bruzzone Ichim ◽  
Eloisa Scarso ◽  
Maurizia Baldi ◽  
Anwar Barban ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Increased Nuchal Translucency

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1995 ◽  
Vol 4 (11) ◽  
pp. 2175-2177 ◽  
Author(s):  
P. L. Tavormina ◽  
D. L. Rimoin ◽  
D. H. Cohn ◽  
Y.-Z. Zhu ◽  
R. Shiang ◽  
...  
Keyword(s):  
Extracellular Domain ◽  
Cysteine Residue ◽  
Type I ◽  
Thanatophoric Dysplasia

scholarly journals Diagnosis of chromosomal abnormalities in a case with thanatophoric dysplasia (TD) type I: the first report describing an important association between cytogenetic findings and TD.

2012 ◽  
Vol 13 ◽  
pp. 109-113
Author(s):  
Mehmet Turgut ◽  
Osman Demirhan ◽  
Erdal Tunç ◽  
Ibrahim Hakan Bucak ◽  
Perihan Yasemen Canoz ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
First Report

Clinical and Biochemical Findings of a Patient with Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria

2002 ◽  
Vol 39 (2) ◽  
pp. 246-248
Author(s):  
Kazuki Okajima ◽  
Kiyofumi Asai ◽  
Toshimitsu Niwa ◽  
Shigeru Ohki ◽  
Hisanori Sobajima ◽  
...  
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia ◽  
Dicarboxylic Aciduria ◽  
Additional Finding

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

2000 ◽  
Vol 20 (10) ◽  
pp. 835-837 ◽  
Author(s):  
Pierangela De Biasio ◽  
Federico Prefumo ◽  
Maria Baffico ◽  
Maurizia Baldi ◽  
Manuela Priolo ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Type I ◽  
Thanatophoric Dysplasia

scholarly journals Effect of Thanatophoric Dysplasia Type I Mutations on FGFR3 Dimerization

2015 ◽  
Vol 108 (2) ◽  
pp. 272-278 ◽  
Author(s):  
Nuala Del Piccolo ◽  
Jesse Placone ◽  
Kalina Hristova
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia
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