The first Korean case of Beare-Stevenson Syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene

Journal of Korean Medical Science

Volumn 22, Issue 2, 2007, Pages 352-356

  Eun, So Hee ^a   Ki, Ssu Ha ^a   Je, Bo Kyung ^a   Eung, Seok Lee ^a   Byung, Min Choi ^a,b   Jung, Hwa Lee ^a   Eun, Baik Lin ^a   Kee, Hwan Yoo ^a  

^a Korea University College of Medicine   (South Korea)

^b Korea University Ansan Hospital   (South Korea)

Author keywords

Beare Stevenson syndrome; Craniosynostosis; FGFR2 gene; Mutation

Indexed keywords

EID: 34248567819     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2007.22.2.352     Document Type: Article

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