학술논문
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
Document Type
article
Author
Source
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.