Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
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DOI: 10.1038/s41467-021-25844-5
Abstract: 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… read more here.
Keywords: patella syndrome; limb; nail patella; lmx1b ... See more keywords
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23042075
Abstract: Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a… read more here.
Keywords: tbx4; novel tbx4; small patella; patella syndrome ... See more keywords