Thanatophoric dysplasia, type I [PDF]
Journal of Perinatology, 2012 Marilyn J. Siegel, Thomas E. Herman
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Conceptual Breakthroughs In Developmental Biology [PDF]
, 1998 Gilbert, Scott F.
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Generation of Fgfr3 Conditional Knockout Mice
International Journal of Biological Sciences, 2010 Fibroblast growth factor receptor 3 (FGFR3), highly conserved in both humans and murine, is one of key tyrosine kinase receptors for FGF. FGFR3 is expressed in different tissues, including cartilage, brain, kidney, and intestine at different development ...
Nan Su, Xiaoling Xu, Cuiling Li, Qifen He, Ling Zhao, Can Li, Siyu Chen, Fengtao Luo, Lingxian Yi, Xiaolan Du, Haiyang Huang, Chuxia Deng, Lin Chen
doaj
Analysis of the mechanism of high incidence of thanatophoric dysplasia type I [PDF]
, 2017 致死性侏儒症（thanatophoric dysplasia,TD）是重型短肢畸形病中相对常见的致死性遗传性骨病,分为TD-I和TD-II 2型,它们都是由于FGFR3基因发生致死突变所致。TD-I型存在多种致病性突变,其中以c.742C〉T/p.R248C突变最为常见。本病为常染色体显性遗传（autosomal dominant,AD）,杂合突变即可致死,但为何表型、基因型正常的父母会生出带有p.R248C突变的患胎并且是纯合突变的死胎？如果是新生突变,又为何会接连数胎生出同样的患胎？p ...
姜煜, 郭东炜, 郭奕斌
core
Thanatophoric dysplasia Variant in Identical Saudi Twins; Prenatal Diagnosis and Genetic Analysis
, 2009 Adnan A. Alsulaimani
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Thanatophoric dysplasia: A case report with probable recurrence [PDF]
Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia caused by new mutation in the fibroblast growth factor receptor 3 gene.
Charan, Lakshmi +3 more
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A case of thanatophoric dysplasia type 2: a novel mutation. [PDF]
J Clin Res Pediatr Endocrinol, 2015 Gülaşı S, Atıcı A, Çelik Y.
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2D/3D sonographic imaging of thanatophoric dysplasia type I at 19 weeks of gestation [PDF]
, 2001 Ritsuko Pooh, S. Nishida, Yasumasa Ohno
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UNDIAGNOSED THANATOPHORIC DYSPLASIA AT TERM- OBSTETRICIAN’S DILEMMA!!- A CASE REPORT
, 2017 Kshama Kedar +2 more
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Camera G, Baldi M, Strisciuglio P, Concolino D, Mastroiacovo P, Baffico M. 2001. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 104:277–281. [PDF]
, 2002 openalex +1 more source