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 WollnikVolume:
31
Year:
2010
Language:
english
Pages:
9
DOI:
10.1002/humu.21142
File:
PDF, 392 KB
english, 2010