Identification of limb-specific Lmx1b auto-regulatory modules with Nail-Patella Syndrome pathogenicity.
Endika Haro, Florence Petit, Charmaine U. Pira, Conor Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne‐Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean‐Marc Good, Christine Francannet, Sylvie Manouvrier‐Hanu, María A. Ros, Kerby C. Oberg
The paper identifies two Lmx1b cis-regulatory modules critical for limb development and shows their disruption in NPS patients with normal coding sequence.
Nature Communications · Sep 20, 2021Peer-reviewedDevelopmental Biology