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• W3022466466 endingPage "557" @default.
• W3022466466 startingPage "545" @default.
• W3022466466 abstract "Nail-patella syndrome (NPS) is a dominantly inherited malformation syndrome that affects multiple organs including the skeleton, nails, eyes, and kidneys. The skeletal dysplasia of NPS includes abnormalities of the knees, elbows, pelvis, and feet. Primary open-angle glaucoma (POAG) has been shown to cosegregate with NPS in some families and is now considered a variable feature of NPS. The renal disease that accompanies NPS has the greatest impact on long-term morbidity and mortality. Renal symptoms can start at any age and most often begin as microalbuminuria with or without hematuria. Proteinuria can be intermittent and may present during or be exacerbated by pregnancy. Mutations in the LMX1Bgene cause NPS. NPS was one of the first Mendelian conditions mapped by linkage using ABO blood groups. NPS is associated with a variety of orthopedic problems including chronic problems with elbows and knees and foot abnormalities. The LMX1B protein contains, from the N-terminus to the C-terminus, four distinct functional domains, two LIM domains, LIM-A and LIM-B that are important for protein-protein interactions, a homeodomain important for DNA binding, and a glutamine-rich and serine-rich domain with putative transcriptional activation functions. The skeletal features of NPS likely reflect a relative loss of Lmx1bspecification of dorsal patterning of the limb mesenchyme. This is best exemplified by the hypoplasia of the patella, an embryologic dorsal element of hindlimb morphogenesis. At the same time, dorsal-ventral patterning is intimately linked to establishment of anterior-posterior pattern. The persistence of Lmx1bexpression in distal limb mesenchymal derivatives in a graded pattern across the A/P axis is reflected in the nail dysplasia that is often more severe in the anterior digits." @default.
• W3022466466 created "2020-05-13" @default.
• W3022466466 creator A5042694502 @default.
• W3022466466 creator A5057626263 @default.
• W3022466466 creator A5065018867 @default.
• W3022466466 date "2009-01-01" @default.
• W3022466466 modified "2023-10-14" @default.
• W3022466466 title "Nail-Patella Syndrome" @default.
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