Concepedia

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Gail E. Graham, Mark Hannibal, Jeffrey W. Innis, Mary Ella Pierpont,

Pediatric Research · 2005 · 150 citations · 24 references

DOI

Concepts

References

24

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson, David R. Bachinsky, Robert C. Lin et al. · Nature Genetics · 1997 · 1.1K citations

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, Andrew R.J. Curtis et al. · Nature Genetics · 1997 · 929 citations

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Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

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FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS

Margrethe Flesvig Holt, S. Oram · Heart · 1960 · 503 citations · Full text

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The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)

Craig T. Basson, Glenn S. Cowley, Scott D. Solomon et al. · New England Journal of Medicine · 1994 · 393 citations · Full text

, , +15