A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner Mesomelic Syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Dagmar Wieczorek*, Barbara Pawlik, Yun Li, Nurten A. Akarsu, Almuth Caliebe, Klaus J.W. May, Bernd Schweiger, Fernando R. Vargas, Sevim Balci, Gabriele Gillessen-Kaesbach, Bernd Wollnik

*Korrespondierende/r Autor/-in für diese Arbeit
70 Zitate (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology