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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire,

European Journal of Human Genetics · 2018 · 62 citations · 38 references

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38

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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Chamber-Specific Cardiac Expression of Tbx5 and Heart Defects in Holt–Oram Syndrome

Benoit G. Bruneau, Malcolm Logan, Tatjana Levi et al. · Developmental Biology · 1999 · 509 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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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 426 citations

, , +6