Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Author:

Chen Shin-Wen,Chen Chih-Ping,Wang Liang-Kai,Chern Schu-Rern,Wu Pei-Chen,Chen Yen-Ni,Lin Chen-Ju,Chen Wen-Ling,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference36 articles.

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2. The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland – a complete population study;Donnelly;Ulster Med J,2010

3. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US;Waller;Am J Med Genet A,2008

4. Karczeski B, Cutting GR. Thanatophoric dysplasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2016. Available at: https://www.ncbi.nlm.nih.gov/pubmed/20301540. Updated September 12, 2013; [Accessed 1 October 2016].

5. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia;Chen;Prenat Diagn,2001

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