Article

Identification of limb-specific <i>Lmx1b</i> auto-regulatory modules with Nail-Patella Syndrome pathogenicity

2020-08-10

Abstract excerpt

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 functional allele of murine Lmx1b appears adequate for development, Lmx1b null mice display ventral-ventral distal l...

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Literature Corpus work: bcd59d16-6bcd-58f5-96ec-a93eaad0b992
DOI: 10.1101/2020.08.10.243915

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