A <i>ZRS</i> duplication causes syndactyly type IV with tibial hypoplasia

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

Laura A. Lettice · Human Molecular Genetics · 2003 · 1.2K citations · Full text

Genetics, Genomic Mechanism, Preaxial Polydactyly +18

Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, T. Horikoshi, Simon J. H. Heaney et al. · Proceedings of the National Academy of Sciences · 2002 · 456 citations · Full text

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

Eva Klopocki, Claus‐Eric Ott, N Benatar et al. · Journal of Medical Genetics · 2008 · 120 citations

Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific <i>SHH</i> enhancer

Miao Sun, Fengxia Ma, Xuan Zeng et al. · Journal of Medical Genetics · 2008 · 115 citations

Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

Christina A. Gurnett, A. Bowcock, Frederick R. Dietz et al. · American Journal of Medical Genetics Part A · 2006 · 112 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16