Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency by Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold

Subjects: Get full text

Case Report: Compound heterozygous variants in BHLHA9 cause complex syndactyly with oligodactyly, renal artery variation, and facial scar by Weidong Wei, Weidong Wei, Xiaosha Wang, Xiaosha Wang, Tao Zhang, Tao Zhang, Yongxing Zhong, Yongxing Zhong, Jintang Zhang, Jintang Zhang, Hua Yuan, Hua Yuan, Xiaoliang Shi, Xiaoliang Shi, Yao He, Yao He, Haitao Pan, Haitao Pan, Zhen Yang, Yuejuan Wang

Subjects: Get full text

Evidence for Fgf and Wnt regulation of Lhx2 during limb development via two limb-specific Lhx2-associated cis-regulatory modules by Jessica C. Britton, Anett Somogyi-Leatigaga, Billy A. Watson, Endika Haro, Cassidy G. Mulder, Kari D. Kennedy, Allen M. Cooper, Kristen L. Whitley, Ruth-Love Yeboah, Jeanyoung Kim, Micah C. Yu, Micah C. Yu, Jairo D. Campos, Jairo D. Campos, Japhet Amoah, Japhet Amoah, Shimako Kawauchi, Eunyoung Kim, Charmaine U. Pira, Kerby C. Oberg

Subjects: Get full text

The 3′ region of the ZPA regulatory sequence (ZRS) is required for activity and contains a critical E-box by Kathryn F. Ball, Kathryn F. Ball, Stephen Manu, Abbie K. Underhill, Jeanyoung Kim, Jessica C. Britton, Sarah R. Rudd, Madison M. Malone, Japhet Amoah, Allen Cooper, Charmaine Pira, Kerby C. Oberg

Subjects: “…limb development…”
Get full text

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report by R. Leonardi, G. Pellino, E. Floridia, M. Lo Bianco, M. Ruggieri, SY. Cho, V. Pavone, P. Pavone, A. Polizzi

Subjects: “…Genetic Variants in Limb Development…”
Get full text

Genetic Deficiency of Hyaluronan Synthase 2 in the Developing Limb Mesenchyme Impairs Postnatal Synovial Joint Formation by Yingcui Li, Alexander Tress, Peter Maye, Kemar Edwards, Asiona Findletar, Nathaniel A. Dyment, Yu Yamaguchi, David W. Rowe, Gengyun Le-Chan, Sunny S. K. Chan, Kevin W.-H. Lo

Subjects: Get full text

Elavl1 deletion in limb mesenchyme is dispensable for skeletal morphogenesis by Rohini Parsha, Satya K. Kota

Subjects: “…limb development…”
Get full text