Literature DB >> 25584280

Lethal short limb dwarfism: thanatophoric dysplasia- type I.

Charusheela Sujit Korday1, Ravindra Kumar Sharma2, Sonali Paradhi2, Sushma Malik3.   

Abstract

Entities:  

Keywords:  Birth defects; Fibroblast growth factor receptor; Skeletal dysplasia; Thanatophoric dwarfism

Year:  2014        PMID： 25584280      PMCID： PMC4290302          DOI： 10.7860/JCDR/2014/9195.5174

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN： 0973-709X


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  2 in total

1.  Thanatophoric dysplasia: a rare entity.

Authors:  N S Naveen; B V Murlimanju; Vishal Kumar; Thejodhar Pulakunta
Journal:  Oman Med J       Date:  2011-05

2.  A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.

Authors:  Eun Jung Noe; Han Wook Yoo; Kwang Nam Kim; So Yeon Lee
Journal:  Korean J Pediatr       Date:  2010-12-31
  2 in total

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