Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles in the development of the limb, kidney and eye. Although one fu...

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Detalles Bibliográficos
Autores principales: Haro, Endika, Petit, Florence, Pira, Charmaine U., Spady, Conor D., Lucas-Toca, Sara, Yorozuya, Lauren I., Gray, Austin L., Escande, Fabienne, Jourdain, Anne-Sophie, Nguyen, Andy, Fellmann, Florence, Good, Jean-Marc, Francannet, Christine, Manouvrier-Hanu, Sylvie, Ros, Marian A., Oberg, Kerby C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452625/
https://www.ncbi.nlm.nih.gov/pubmed/34545091
http://dx.doi.org/10.1038/s41467-021-25844-5

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